Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
July-2019 Volume 20 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
July-2019 Volume 20 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML

  • Supplementary Files
    • Supplementary_Data.pdf
Article Open Access

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

  • Authors:
    • Marketa Wayhelova
    • Jan Oppelt
    • Jan Smetana
    • Eva Hladilkova
    • Hana Filkova
    • Eva Makaturova
    • Petra Nikolova
    • Rastislav Beharka
    • Renata Gaillyova
    • Petr Kuglik
  • View Affiliations / Copyright

    Affiliations: Institute of Experimental Biology, Faculty of Science, Masaryk University, 611 37 Brno, Czech Republic, CEITEC‑Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic, Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic
    Copyright: © Wayhelova et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].
  • Pages: 505-512
    |
    Published online on: May 27, 2019
       https://doi.org/10.3892/mmr.2019.10303
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

De novo sequence variants, including truncating and splicing variants, in the additional sex‑combs like 3 gene (ASXL3) have been described as the cause of Bainbridge‑Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor development, severe intellectual disability, growth delay, hypotonia and facial dimorphism. The present study reports a case of a girl (born in 2013) with severe global developmental delay, central hypotonia, microcephaly and poor speech. The proband was examined using a multi‑step molecular diagnostics algorithm, including karyotype and array‑comparative genomic hybridization analysis, with negative results. Therefore, the proband and her unaffected parents were enrolled for a pilot study using targeted next‑generation sequencing technology (NGS) with gene panel ClearSeq Inherited DiseaseXT and subsequent validation by Sanger sequencing. A novel de novo heterozygous frameshift variant in the ASXL3 gene (c.3006delT, p.R1004Efs*21), predicted to result in a premature termination codon, was identified. In conclusion, the present study demonstrated that targeted NGS using a suitable, gene‑rich panel may provide a conclusive molecular genetics diagnosis in children with severe global developmental delays.
View Figures

Figure 1

Figure 2

View References

1 

Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, Oortveld MA, Kleefstra T, Kramer JM, et al: Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules. Am J Hum Genet. 98:149–164. 2016. View Article : Google Scholar : PubMed/NCBI

2 

Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, et al: Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. J Med Genet. 51:724–736. 2014. View Article : Google Scholar : PubMed/NCBI

3 

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, et al: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet. 380:1674–1682. 2012. View Article : Google Scholar : PubMed/NCBI

4 

Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM and Bielas SL: De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. Hum Mol Genet. 25:597–608. 2016. View Article : Google Scholar : PubMed/NCBI

5 

Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, et al: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 5:112013. View Article : Google Scholar : PubMed/NCBI

6 

Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, et al: Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur J Hum Genet. 25:183–191. 2017. View Article : Google Scholar : PubMed/NCBI

7 

Vojta V and Peters A: Das Vojta Prinzip. 3rd edition. Springer; Heidelberg: 2007,

8 

Jung MW, Landenberger M, Jung T, Lindenthal T and Philippi H: Vojta therapy and neurodevelopmental treatment in children with infantile postural asymmetry: A randomized controlled trial. J Phys Ther Sci. 29:301–306. 2017. View Article : Google Scholar : PubMed/NCBI

9 

Silva M, de Leeuw N, Mann K, Schuring-Blom H, Morgan S, Giardino D, Rack K and Hastings R: European guidelines for constitutional cytogenomic analysis. Eur J Hum Genet. 27:1–16. 2019. View Article : Google Scholar : PubMed/NCBI

10 

Howe B, Umrigar A and Tsien F: Chromosome preparation from cultured cells. J Vis Exp. e502032014.PubMed/NCBI

11 

Roy S and Motsinger Reif A: Evaluation of calling algorithms for array-CGH. Front Genet. 4:2172013. View Article : Google Scholar : PubMed/NCBI

12 

Davis MP, van Dongen S, Abreu-Goodger C, Bartonicek N and Enright AJ: Kraken: A set of tools for quality control and analysis of high-throughput sequence data. Methods. 63:41–49. 2013. View Article : Google Scholar : PubMed/NCBI

13 

Martin M: Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnet.journal. 17:10–12. 2011. View Article : Google Scholar

14 

Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, et al: Initial sequencing and analysis of the human genome. Nature. 409:860–921. 2001. View Article : Google Scholar : PubMed/NCBI

15 

Speir ML, Zweig AS, Rosenbloom KR, Raney BJ, Paten B, Nejad P, Lee BT, Learned K, Karolchik D, Hinrichs AS, et al: The UCSC Genome Browser database: 2016 update. Nucleic Acids Res. 44:D717–D725. 2016. View Article : Google Scholar : PubMed/NCBI

16 

Li H and Durbin R: Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 25:1754–1760. 2009. View Article : Google Scholar : PubMed/NCBI

17 

Lunter G and Goodson M: Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res. 21:936–939. 2011. View Article : Google Scholar : PubMed/NCBI

18 

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G and Durbin R; 1000 Genome Project Data Processing Subgroup, : The Sequence Alignment/Map format and SAMtools. Bioinformatics. 25:2078–2079. 2009. View Article : Google Scholar : PubMed/NCBI

19 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, et al: The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20:1297–1303. 2010. View Article : Google Scholar : PubMed/NCBI

20 

Quinlan AR and Hall IM: BEDTools: A flexible suite of utilities for comparing genomic features. Bioinformatics. 26:841–842. 2010. View Article : Google Scholar : PubMed/NCBI

21 

Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis ER, Ding L and Wilson RK: VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 22:568–576. 2012. View Article : Google Scholar : PubMed/NCBI

22 

Cingolani P, Patel VM, Coon M, Nguyen T, Land SJ, Ruden DM and Lu X: Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift. Front Genet. 3:352012. View Article : Google Scholar : PubMed/NCBI

23 

Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, et al ClinVar, : Public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 44:D862–D868. 2016. View Article : Google Scholar : PubMed/NCBI

24 

Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X and Ruden DM: A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 6:80–92. 2012. View Article : Google Scholar : PubMed/NCBI

25 

Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, et al: The variant call format and VCFtools. Bioinformatics. 27:2156–2158. 2011. View Article : Google Scholar : PubMed/NCBI

26 

Obenchain V, Lawrence M, Carey V, Gogarten S, Shannon P and Morgan M: VariantAnnotation: A Bioconductor package for exploration and annotation of genetic variants. Bioinformatics. 30:2076–2078. 2014. View Article : Google Scholar : PubMed/NCBI

27 

Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G and Mesirov JP: Integrative genomics viewer. Nat Biotechnol. 29:24–26. 2011. View Article : Google Scholar : PubMed/NCBI

28 

Thorvaldsdóttir H, Robinson JT and Mesirov JP: Integrative Genomics Viewer (IGV): High-performance genomics data visualization and exploration. Brief Bioinform. 14:178–192. 2013. View Article : Google Scholar : PubMed/NCBI

29 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 17:405–424. 2015. View Article : Google Scholar : PubMed/NCBI

30 

Hamosh A, Scott AF, Amberger JS, Bocchini CA and McKusick VA: Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 33:D514–D517. 2005. View Article : Google Scholar : PubMed/NCBI

31 

UniProt Consortium: The universal protein resource (UniProt). Nucleic Acids Res. 36:D190–D195. 2008.PubMed/NCBI

32 

Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, et al: Analysis of protein-coding genetic variation in 60,706 humans. Nature. 536:285–291. 2016. View Article : Google Scholar : PubMed/NCBI

33 

1000 Genomes Project Consortium, ; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA and Abecasis GR: A global reference for human genetic variation. Nature. 526:68–74. 2015. View Article : Google Scholar : PubMed/NCBI

34 

Choi Y, Sims GE, Murphy S, Miller JR and Chan AP: Predicting the functional effect of amino acid substitutions and indels. PLoS One. 7:e466882012. View Article : Google Scholar : PubMed/NCBI

35 

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods. 7:248–249. 2010. View Article : Google Scholar : PubMed/NCBI

36 

Schwarz JM, Cooper DN, Schuelke M and Seelow D: MutationTaster2: Mutation prediction for the deep-sequencing age. Nat Methods. 11:361–362. 2014. View Article : Google Scholar : PubMed/NCBI

37 

Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R and Massouras A: VarSome: The human genomic variant search engine. Bioinformatics. 2018.

38 

Untergasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, Remm M and Rozen SG: Primer3-new capabilities and interfaces. Nucleic Acids Res. 40:e1152012. View Article : Google Scholar : PubMed/NCBI

39 

Koressaar T and Remm M: Enhancements and modifications of primer design program Primer3. Bioinformatics. 23:1289–1291. 2007. View Article : Google Scholar : PubMed/NCBI

40 

Ye J, Coulouris G, Zaretskaya I, Cutcutache I, Rozen S and Madden TL: Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction. BMC Bioinformatics. 13:1342012. View Article : Google Scholar : PubMed/NCBI

41 

Katoh M and Katoh M: Identification and characterization of ASXL3 gene in silico. Int J Oncol. 24:1617–1622. 2004.PubMed/NCBI

42 

Katoh M: Functional and cancer genomics of ASXL family members. Br J Cancer. 109:299–306. 2013. View Article : Google Scholar : PubMed/NCBI

43 

Sinclair DA, Milne TA, Hodgson JW, Shellard J, Salinas CA, Kyba M, Randazzo F and Brock HW: The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes. Development. 125:1207–1216. 1998.PubMed/NCBI

44 

Gaytán de Ayala Alonso A, Gutiérrez L, Fritsch C, Papp B, Beuchle D and Müller J: A genetic screen identifies novel polycomb group genes in Drosophila. Genetics. 176:2099–2108. 2007. View Article : Google Scholar : PubMed/NCBI

45 

Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, et al: Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J Med Genet. 54:537–543. 2017. View Article : Google Scholar : PubMed/NCBI

46 

Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A and Opitz JM: Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet. 85:438–446. 1999. View Article : Google Scholar : PubMed/NCBI

47 

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, et al: De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype. Am J Hum Genet. 99:991–999. 2016. View Article : Google Scholar : PubMed/NCBI

48 

Chinen Y, Nakamura S, Ganaha A, Hayashi S, Inazawa J, Yanagi K, Nakanishi K, Kaname T and Naritomi K: Mild prominence of Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3. Clin Case Rep. 6:330–336. 2017. View Article : Google Scholar : PubMed/NCBI

49 

Giri D, Rigden D, Didi M, Peak M, McNamara P and Senniappan S: Novel compound heterozygous ASXL3 mutation causing Bainbridge-Ropers like syndrome and primary IGF1 deficiency. Int J Pediatr Endocrinol. 2017:82017. View Article : Google Scholar : PubMed/NCBI

50 

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, et al: Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515:209–215. 2014. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Wayhelova M, Oppelt J, Smetana J, Hladilkova E, Filkova H, Makaturova E, Nikolova P, Beharka R, Gaillyova R, Kuglik P, Kuglik P, et al: Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. Mol Med Rep 20: 505-512, 2019.
APA
Wayhelova, M., Oppelt, J., Smetana, J., Hladilkova, E., Filkova, H., Makaturova, E. ... Kuglik, P. (2019). Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. Molecular Medicine Reports, 20, 505-512. https://doi.org/10.3892/mmr.2019.10303
MLA
Wayhelova, M., Oppelt, J., Smetana, J., Hladilkova, E., Filkova, H., Makaturova, E., Nikolova, P., Beharka, R., Gaillyova, R., Kuglik, P."Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay". Molecular Medicine Reports 20.1 (2019): 505-512.
Chicago
Wayhelova, M., Oppelt, J., Smetana, J., Hladilkova, E., Filkova, H., Makaturova, E., Nikolova, P., Beharka, R., Gaillyova, R., Kuglik, P."Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay". Molecular Medicine Reports 20, no. 1 (2019): 505-512. https://doi.org/10.3892/mmr.2019.10303
Copy and paste a formatted citation
x
Spandidos Publications style
Wayhelova M, Oppelt J, Smetana J, Hladilkova E, Filkova H, Makaturova E, Nikolova P, Beharka R, Gaillyova R, Kuglik P, Kuglik P, et al: Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. Mol Med Rep 20: 505-512, 2019.
APA
Wayhelova, M., Oppelt, J., Smetana, J., Hladilkova, E., Filkova, H., Makaturova, E. ... Kuglik, P. (2019). Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. Molecular Medicine Reports, 20, 505-512. https://doi.org/10.3892/mmr.2019.10303
MLA
Wayhelova, M., Oppelt, J., Smetana, J., Hladilkova, E., Filkova, H., Makaturova, E., Nikolova, P., Beharka, R., Gaillyova, R., Kuglik, P."Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay". Molecular Medicine Reports 20.1 (2019): 505-512.
Chicago
Wayhelova, M., Oppelt, J., Smetana, J., Hladilkova, E., Filkova, H., Makaturova, E., Nikolova, P., Beharka, R., Gaillyova, R., Kuglik, P."Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay". Molecular Medicine Reports 20, no. 1 (2019): 505-512. https://doi.org/10.3892/mmr.2019.10303
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team