Now showing items 1-2 of 2
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 ...
Letter: Pervasive Blindness and ocular morbidity in the Chepang people of Nepal
(Nepal Ophthalmic Society, 2016)