Article
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.
Molecular vision - 1 Jan 2013
Al-Araimi Musallam, Pal Bishwanath, Poulter James A, van Genderen Maria M, Carr Ian, Cudrnak Tomas, Brown Lawrence, Sheridan Eamonn, Mohamed Moin D, Bradbury John, Ali Manir, Inglehearn Chris F, Toomes Carmel
Abstract excerpt
PURPOSE: We have previously described two families with unique phenotypes involving foveal hypoplasia. The first family (F1) presented with foveal hypoplasia and anterior segment dysgenesis, and the second family (F2) presented with foveal hypoplasia and chiasmal misrouting in the absence of albinism. A genome-wide linkage search in family F1 identified a 6.5 Mb locus for this disorder on chromosome 16q23.2-24.1....
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