Article
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
Clinical genetics - 1 Feb 2011
Schilter K F, Schneider A, Bardakjian T, Soucy J-F, Tyler R C, Reis L M, Semina E V
Abstract excerpt
The OTX2 homeobox-containing transcription factor gene was shown to play a key role in the development of head structures in vertebrates. In humans, OTX2 mutations result in anophthalmia/microphthalmia (A/M) often associated with systemic anomalies. We screened 52 unrelated individuals affected with A/M and identified disease-causing variants in four families (8%), a higher frequency than previously reported. All...
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