Now showing items 1-3 of 3
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
(BMJ Publishing Group - http://bjo.bmjjournals.com/, 2005-07)
AIMS: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus ...
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.
(BMJ Publishing Group - http://bjo.bmjjournals.com/, 2004-01)
AIMS: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia. METHODS: ...
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 ...