Article
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
European journal of medical genetics - 1 Jan 2000
Pedace Lucia, Castori Marco, Binni Francesco, Pingi Alberto, Grammatico Barbara, Scommegna Salvatore, Majore Silvia, Grammatico Paola
Abstract excerpt
Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10-15% cases. Here, we describe a sporadic patient showing bilateral...
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