Article
SOX2 anophthalmia syndrome.
American journal of medical genetics. Part A - 15 May 2005
Ragge Nicola K, Lorenz Birgit, Schneider Adele, Bushby Kate, de Sanctis Luisa, de Sanctis Ugo, Salt Alison, Collin J Richard O, Vivian Anthony J, Free Samantha L, Thompson Pamela, Williamson Kathleen A, Sisodiya Sanjay M, van Heyningen Veronica, Fitzpatrick David R
Abstract excerpt
Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). The SOX2-associated ocular malformations are variable in type, but most often...
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