A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

Anterior segment dysgenesis (ASD) disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families with anterior segment dysgenesis disorders.We stud...

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Bibliographic Details

Published in:	PLoS ONE
Main Authors:	Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Cristina Villanueva-Mendoza, Vianney Cortés-González, Muhammad Imran Khan, Anneke I den Hollander
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2016-01-01
Online Access:	http://europepmc.org/articles/PMC4963127?pdf=render