Wordt geladen...

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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:PLoS One
Hoofdauteurs: Micheal, Shazia, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Villanueva-Mendoza, Cristina, Cortés-González, Vianney, Khan, Muhammad Imran, den Hollander, Anneke I.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2016
Onderwerpen:
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!