Article
Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma.
Investigative ophthalmology & visual science - 1 May 2006
Cella Wener, de Vasconcellos José Paulo Cabral, de Melo Mônica Barbosa, Kneipp Bianca, Costa Fernando Ferreira, Longui Carlos Alberto, Costa Vital Paulino
Abstract excerpt
PURPOSE: Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and redundant periumbilical skin. The PITX2 gene, on chromosome 4q25, and the FOXC1 gene, on chromosome 6p25, have been implicated in the different phenotypes of the syndrome through mutational events. Recently, the CYP1B1 gene was found to be associated...
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