Article
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
Molecular vision - 28 Apr 2010
Reis Linda M, Tyler Rebecca C, Schneider Adele, Bardakjian Tanya, Semina Elena V
Abstract excerpt
PURPOSE: The role of SRY-Box 2 (SOX2) in anophthalmia/microphthalmia (A/M) is well known, with 10%-20% of A/M explained by mutations in SOX2. SOX2 plays roles in the development of both the posterior and anterior segment structures of the eye and relies on interactions with tissue-specific partner proteins to execute its function, raising the possibility that SOX2 mutations may result in varying ocular...
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