Article
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
Orphanet journal of rare diseases - 20 Feb 2014
Verdin Hannah, Sorokina Elena A, Meire Françoise, Casteels Ingele, de Ravel Thomy, Semina Elena V, De Baere Elfride
Abstract excerpt
BACKGROUND: Congenital cataracts are clinically and genetically heterogeneous with more than 45 known loci and 38 identified genes. They can occur as isolated defects or in association with anterior segment developmental anomalies. One of the disease genes for congenital cataract with or without anterior segment dysgenesis (ASD) is PITX3, encoding a transcription factor with a crucial role in lens and anterior...
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