Article
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.
Ophthalmic genetics - 1 Apr 2020
Berry Vanita, Pontikos Nikolas, Dudakova Lubica, Moore Anthony T, Quinlan Roy, Liskova Petra, Michaelides Michel
Abstract excerpt
Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family.Methods: Whole exome sequencing (WES) was performed on one affected member in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.