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Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

PURPOSE: The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. METHODS: All participating individuals underwent a detailed ophthalmic examination. Each patient’s medical history, particularly of cataracts and o...

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Detalles Bibliográficos
Autores principales:	Irum, Bushra, Khan, Shahid Y., Ali, Muhammad, Daud, Muhammad, Kabir, Firoz, Rauf, Bushra, Fatima, Fareeha, Iqbal, Hira, Khan, Arif O., Al Obaisi, Saif, Naeem, Muhammad Asif, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Eghrari, Allen O., Riazuddin, S. Amer
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/PMC5147899/ https://www.ncbi.nlm.nih.gov/pubmed/27936067 http://dx.doi.org/10.1371/journal.pone.0167562

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