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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
(Nature Publishing Group, 2017-03-08)
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 ...