|
1
|
Nance WE, Warburg M, Bixler D and
Helveston EM: Congenital X-linked cataract, dental anomalies and
brachymetacarpalia. Birth Defects Orig Artic Ser. 10:285–291.
1974.PubMed/NCBI
|
|
2
|
Walpole I, Hockey A and Nicoll A: The
Nance-Horan syndrome. J Med Genet. 27:632–634. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Li H, Yang L, Sun Z, Yuan Z, Wu S and Sui
R: A novel small deletion in the NHS gene associated with
Nance-Horan syndrome. Sci Rep. 8:23982018. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Chograni M, Rejeb I, Jemaa LB, Châabouni M
and Bouhamed HC: The first missense mutation of NHS gene in a
Tunisian family with clinical features of NHS syndrome including
cardiac anomaly. Eur J Hum Genet. 19:851–856. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Brooks SP, Ebenezer ND, Poopalasundaram S,
Lehmann OJ, Moore AT and Hardcastle AJ: Identification of the gene
for Nance-Horan syndrome (NHS). J Med Genet. 41:768–771. 2004.
View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Coccia M, Brooks SP, Webb TR,
Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA,
Wangensteen T, Riise R, et al: X-linked cataract and Nance-Horan
syndrome are allelic disorders. Hum Mol Genet. 18:2643–2655. 2009.
View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Li A, Li B, Wu L, Yang L, Chen N and Ma Z:
Identification of a novel NHS mutation in a Chinese family with
Nance-Horan syndrome. Curr Eye Res. 40:434–438. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Tug E, Dilek NF, Javadiyan S, Burdon KP
and Percin FE: A Turkish family with Nance-Horan Syndrome due to a
novel mutation. Gene. 525:141–145. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Lewis RA, Nussbaum RL and Stambolian D:
Mapping X-linked ophthalmic diseases. IV. Provisional assignment of
the locus for X-linked congenital cataracts and microcornea (the
Nance-Horan syndrome) to Xp22.2-p22.3. Ophthalmology. 97:110–121.
1990. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Bixler D, Higgins M and Hartsfield J Jr:
The Nance-Horan syndrome: A rare X-linked ocular-dental trait with
expression in heterozygous females. Clin Genet. 26:30–35. 1984.
View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Burdon KP, McKay JD, Sale MM,
Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke
MP, FitzGerald LM, et al: Mutations in a novel gene, NHS, cause the
pleiotropic effects of Nance-Horan syndrome, including severe
congenital cataract, dental anomalies, and mental retardation. Am J
Hum Genet. 73:1120–1130. 2003. View
Article : Google Scholar : PubMed/NCBI
|
|
12
|
Messina-Baas O and Cuevas-Covarrubias S:
Inherited congenital cataract: A guide to suspect the genetic
etiology in the cataract genesis. Mol Syndromol. 8:58–78. 2017.
View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Nozaki F, Kusunoki T, Okamoto N, Yamamoto
Y, Miya F, Tsunoda T, Kosaki K, Kumada T, Shibata M and Fujii T:
ALDH18A1-related cutis laxa syndrome with cyclic vomiting. Brain
Dev. 38:678–684. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Bhola PT, Hartley T, Bareke E; Care4Rare
Canada Consortium, ; Boycott KM, Nikkel SM and Dyment DA: Autosomal
dominant cutis laxa with progeroid features due to a novel, de novo
mutation in ALDH18A1. J Hum Genet. 62:661–663. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Gershoni-Baruch R, Baruch Y, Viener A and
Lichtig C: Fechtner syndrome: Clinical and genetic aspects. Am J
Med Genet. 31:357–367. 1988. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Sun W, Xiao X, Li S, Guo X and Zhang Q:
Exome sequencing of 18 Chinese families with congenital cataracts:
A new sight of the NHS gene. PLoS One. 9:e1004552014. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Brooks SP, Coccia M, Tang HR, Kanuga N,
Machesky LM, Bailly M, Cheetham ME and Hardcastle AJ: The
Nance-Horan syndrome protein encodes a functional WAVE homology
domain (WHD) and is important for co-ordinating actin remodelling
and maintaining cell morphology. Hum Mol Genet. 19:2421–2432. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Ding X, Patel M, Herzlich AA, Sieving PC
and Chan CC: Ophthalmic pathology of Nance-Horan syndrome: Case
report and review of the literature. Ophthalmic Genet. 30:127–135.
2009. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Shoshany N, Avni I, Morad Y, Weiner C,
Einan-Lifshitz A and Pras E: NHS gene mutations in ashkenazi jewish
families with Nance-Horan Syndrome. Curr Eye Res. 42:1240–1244.
2017. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Ramprasad VL, Thool A, Murugan S,
Nancarrow D, Vyas P, Rao SK, Vidhya A, Ravishankar K and
Kumaramanickavel G: Truncating mutation in the NHS gene: Phenotypic
heterogeneity of Nance-Horan syndrome in an Asian Indian family.
Invest Ophthalmol Vis Sci. 46:17–23. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Sharma S, Ang SL, Shaw M, Mackey DA, Gécz
J, McAvoy JW and Craig JE: Nance-Horan syndrome protein, NHS,
associates with epithelial cell junctions. Hum Mol Genet.
15:1972–1983. 2006. View Article : Google Scholar : PubMed/NCBI
|
