Article
A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.
American journal of medical genetics. Part A - 1 Oct 2005
Slavotinek Anne, Lee Stephen S, Hamilton Steven P
Abstract excerpt
We report on a four-generation family with X-linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the ANOP1 locus. We sequenced the SOX3 gene at Xq27 as a candidate gene for the X-linked anophthalmia based on the high homology of this gene to SOX2, a gene previously mutated in bilateral anophthlamia. However,...
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