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...

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Publicat a:Eur J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
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Article
Accés en línia: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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