Reference
- Horan MB, Billson FA. X-linked cataract and Hutchinsonian teeth. Aust Paediatr J 1974;10:98–102
- Nance WE, Warburg M, Bixler D, Helveston EM. Congenital X-linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser 1974;10:285–291
- Tug E, Dilek NF, Javadiyan S, Burdon KP, Percin FE. A Turkish family with Nance-Horan Syndrome due to a novel mutation. Gene 2013;525:141–145
- Chograni M, Rejeb I, Jemaa LB, Châabouni M, 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 2011;19:851–856
- Walpole IR, Hockey A, Nicoll A. The Nance-Horan syndrome. J Med Genet 1990;27:632–634
- Lewis RA, Nussbaum RL, 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 1990;97:110–120
- Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, 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 2003;73:1120–1130
- Lewis RA. Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome. Trans Am Ophthalmol Soc 1989;87:658–728
- Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). Ophthalmic Genet 2012;33:89–95
- Sharma S, Ang SL, Shaw M, Mackey DA, Gécz J, McAvoy JW, et al. Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. Hum Mol Genet 2006;15:1972–1983
- Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, et al. X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet 2009;18:2643–2655
- Brooks SP, Coccia M, Tang HR, Kanuga N, Machesky LM, Bailly M, et al. 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 2010;19:2421–2432
- Sharma S, Koh KS, Collin C, Dave A, McMellon A, Sugiyama Y, et al. NHS-A isoform of the NHS gene is a novel interactor of ZO-1. Exp Cell Res 2009;315:2358–2372
- Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, Billson F, et al. Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. Mol Vis 2008;14:1856–1864
- Ferreira PA. Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. Hum Mol Genet 2005;14:R259–R267
- Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C. Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 2008;118:1519–1531
- Ramprasad VL, Thool A, Murugan S, Nancarrow D, Vyas P, Rao SK, et al. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family. Invest Ophthalmol Vis Sci 2005;46:17–23
- Huang KM, Wu J, Brooks SP, Hardcastle AJ, Lewis RA, Stambolian D. Identification of three novel NHS mutations in families with Nance-Horan syndrome. Mol Vis 2007;13:470–474