Ontology highlight
ABSTRACT:
SUBMITTER: Mihelec M
PROVIDER: S-EPMC2986670 | biostudies-literature | 2009 Nov
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20090527 11
Anophthalmia (no eye), microphthalmia (small eye) and associated ocular developmental anomalies cause significant visual handicap. In most cases the underlying genetic cause is unknown, but mutations in some genes, such as SOX2, cause ocular developmental defects, particularly anophthalmia, in a subset of patients. Here, we describe a four-generation family with a p.Asp123Gly mutation in the highly conserved partner-factor interaction region of the SOX2 protein, which is important for cell-speci ...[more]