1. WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome
    Akito Sutani et al, 2020, European Journal of Medical Genetics CrossRef
  2. Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects
    Chih-Ping Chen et al, 2020, Taiwanese Journal of Obstetrics and Gynecology CrossRef
  3. Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion
    Jessica F. Yang et al, 2021, Journal of American Association for Pediatric Ophthalmology and Strabismus CrossRef
  4. A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature
    Roxana Popescu et al, 2021, Genes CrossRef
  5. A 4‐year‐old with photosensitivity, recurrent blistering, and heart murmur
    Ankur Guliani et al, 2018, Pediatric Dermatology CrossRef
  6. Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype
    Florian Cherik et al, 2021, European Journal of Medical Genetics CrossRef
  7. Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury
    Ikeoluwa A. Osei-Owusu et al, 2020, Molecular Case Studies CrossRef
  8. Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability
    Jin Sook Lee et al, 2018, Annals of Laboratory Medicine CrossRef
  9. Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
    Anudeep Yekula et al, 2020, Child's Nervous System CrossRef
  10. Talking About Rare Diseases
    Sonia M. Rodrigues Oliveira, 2020, Communicating Rare Diseases and Disorders in the Digital Age CrossRef
  11. Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations:a case report and literature review
    Makiho Ishibashi et al, 2021, FUKUSHIMA JOURNAL OF MEDICAL SCIENCE CrossRef
  12. Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia
    Tae-Gyeong Kim et al, 2020, Journal of Genetic Medicine CrossRef
  13. Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review
    Qinghong Li et al, 2021, Molecular Cytogenetics CrossRef
  14. Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders
    Kaori Hara-Isono et al, 2022, The Journal of Clinical Endocrinology & Metabolism CrossRef
  15. Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies
    Hua Hu et al, 2019, Human Genomics CrossRef
  16. Congenital heart defects and copy number variants associated with neurodevelopmental impairment
    Tina O. Findley et al, 2022, American Journal of Medical Genetics Part A CrossRef