Article
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
American journal of medical genetics. Part A - 1 Feb 2021
Souzeau Emmanuelle, Siggs Owen M, Pasutto Francesca, Knight Lachlan S W, Perez-Jurado Luis A, McGregor Lesley, Le Blanc Shannon, Barnett Christopher P, Liebelt Jan, Craig Jamie E
Abstract excerpt
Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes have never been systematically assessed. Here, 11 facial traits commonly reported in Axenfeld-Rieger syndrome were assessed by five clinical geneticists blinded to the...
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