Article
Exploring the molecular basis of Bardet-Biedl syndrome.
Human molecular genetics - 1 Oct 2001
Katsanis N, Lupski J R, Beales P L
Abstract excerpt
Few autosomal recessive disorders display the degree of pleiotropism and genetic heterogeneity found in Bardet-Biedl syndrome (BBS), a genetic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, cognitive impairment and gonadal and renal dysgenesis. This relatively rare condition has been reported frequently, but we have only recently begun to appreciate the genetic complexities that give...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.