Article
VSX2 mutations in autosomal recessive microphthalmia.
Molecular vision - 1 Jan 2011
Reis Linda M, Khan Ayesha, Kariminejad Ariana, Ebadi Farhad, Tyler Rebecca C, Semina Elena V
Abstract excerpt
PURPOSE: To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia. METHODS: We screened 95 probands with syndromic or isolated developmental ocular conditions (including 55 with anophthalmia/microphthalmia) for mutations in VSX2. RESULTS: Homozygous mutations in VSX2 were identified in two out of five...
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