Article
Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.
Clinical genetics - 1 Jan 2015
Fernandes-Lima Z S, Paixão-Côrtes V R, Andrade A K M de, Fernandes A S, Coronado B N L, Monte Filho H P, Santos M J, Omena Filho R L de, Biondi F C, Ruiz-Linares A, Ramallo V, Hünemeier T, Schuler-Faccini L, Monlleó I L
Abstract excerpt
Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of...
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