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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Vydáno v:PLoS One
Hlavní autoři: Micheal, Shazia, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Villanueva-Mendoza, Cristina, Cortés-González, Vianney, Khan, Muhammad Imran, den Hollander, Anneke I.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2016
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4963127/
https://ncbi.nlm.nih.gov/pubmed/27463523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0160016
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