Article
Novel SOX2 partner-factor domain mutation in a four-generation family.
European journal of human genetics : EJHG - 1 Nov 2009
Mihelec Marija, Abraham Peter, Gibson Kate, Krowka Renata, Susman Rachel, Storen Rebecca, Chen Yongjuan, Donald Jenny, Tam Patrick P L, Grigg John R, Flaherty Maree, Gole Glen A, Jamieson Robyn V
Abstract excerpt
Anophthalmia (no eye), microphthalmia (small eye) and associated ocular developmental anomalies cause significant visual handicap. In most cases the underlying genetic cause is unknown, but mutations in some genes, such as SOX2, cause ocular developmental defects, particularly anophthalmia, in a subset of patients. Here, we describe a four-generation family with a p.Asp123Gly mutation in the highly conserved...
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