Ontology highlight
ABSTRACT:
SUBMITTER: Schneider A
PROVIDER: S-EPMC3693575 | biostudies-literature | 2008 Nov
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20081101 21
The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10-15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. In this report, we describe two sisters with bilateral anophthalmia/microphthalmia, brain anomalies and a novel heterozygous SOX2 gene single-base pair nucleot ...[more]