Article
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
Clinical genetics - 1 Mar 2008
Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo M A
Abstract excerpt
Branchio-oto-renal (BOR) and Stickler (STL) syndromes are disorders that include hearing loss among their clinical features. STL syndrome type I (STL1) is a combination of ophthalmic, orofacial, articular, and auditory manifestations, caused by mutations in the COL2A1. BOR syndrome is an autosomal dominant trait encompassing branchial, otic and renal anomalies because of mutations in EYA1, SIX1 and SIX5. In this...
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