Article
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
Human molecular genetics - 1 Jul 1994
Tassabehji M, Newton V E, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read A P
Abstract excerpt
The human PAX3 gene contains a paired box and a paired-type homeobox, and is believed to play a role in pattern formation in the embryo. We describe the exon-intron structure of the homeobox-containing part of PAX3, complementing earlier descriptions of the 5' part of the gene. Mutations in PAX3 have been described in patients with Type 1 Waardenburg syndrome, who have hearing loss and pigmentary abnormalities,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.