Article
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
Journal of glaucoma - 1 Feb 2002
Borges Adriana Silva, Susanna Remo, Carani José Carlos Eudes, Betinjane Alberto J, Alward Wallace L, Stone Edwin M, Sheffield Val C, Nishimura Darryl Y
Abstract excerpt
PURPOSE: Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder that is characterized by anterior segment defects, glaucoma, and extraocular anomalies. This study examined the two genes known to cause Rieger syndrome, PITX2 and FOXC1, for mutations in five Brazilian families with Axenfeld-Rieger syndrome. METHODS: Five families with a total of 23 persons affected by Axenfeld-Rieger...
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