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

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 disor...

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Detalles Bibliográficos
Autores principales: Micheal, Shazia, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Villanueva-Mendoza, Cristina, Cortés-González, Vianney, Khan, Muhammad Imran, den Hollander, Anneke I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963127/
https://www.ncbi.nlm.nih.gov/pubmed/27463523
http://dx.doi.org/10.1371/journal.pone.0160016

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