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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...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
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 |