Article
Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.
Molecular genetics & genomic medicine - 1 Jul 2020
Lo Faro Valeria, Siddiqui Sorath N, Khan Muhammad I, Villanueva-Mendoza Cristina, Cortés-González Vianney, Jansonius Nomdo, Bergen Arthur A B, Micheal Shazia
Abstract excerpt
PURPOSE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine the PITX2 gene to identify possible novel mutations in Pakistani and Mexican families affected by the ARS phenotype. METHODS: Three unrelated probands with a diagnosis of ARS were recruited for this study. Genomic DNA was isolated from the peripheral...
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