Article
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
PloS one - 1 Jan 2016
Micheal Shazia, Siddiqui Sorath Noorani, Zafar Saemah Nuzhat, Villanueva-Mendoza Cristina, Cortés-González Vianney, Khan Muhammad Imran, den Hollander Anneke I
Abstract excerpt
BACKGROUND: 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. METHODS: We studied 14 Pakistani and one Mexican family with Axenfeld Rieger syndrome (ARS; n = 10) or...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.