Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract

Congenital cataract, an important cause of reversible blindness, is due to several causes including Mendelian inheritance. Thirty percent of cataracts are hereditary with participation of the gamma crystallin genes. Clinical and genetic heterogeneity is observed in patients with gene mutations and c...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Messina-Baas, Olga, Gonzalez-Garay, Manuel L., González-Huerta, Luz M., Toral-López, Jaime, Cuevas-Covarrubias, Sergio A.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2016
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4906430/
https://ncbi.nlm.nih.gov/pubmed/27385965
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000445669
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