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...

Ausführliche Beschreibung