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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Détails bibliographiques
Publié dans:Mol Syndromol
Auteurs principaux: Messina-Baas, Olga, Gonzalez-Garay, Manuel L., González-Huerta, Luz M., Toral-López, Jaime, Cuevas-Covarrubias, Sergio A.
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2016
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Original Article
Accès en ligne: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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