Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract

Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with autosomal dominant isolated congenital cataract and linkage to the crystallin...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Hum Genet
Prif Awduron: Siggs, Owen M, Javadiyan, Shari, Sharma, Shiwani, Souzeau, Emmanuelle, Lower, Karen M, Taranath, Deepa A, Black, Jo, Pater, John, Willoughby, John G, Burdon, Kathryn P, Craig, Jamie E
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2017
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477362/
https://ncbi.nlm.nih.gov/pubmed/28272538
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.33
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