Article
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
1 Sept 2001
Abstract excerpt
Editor—Waardenburg syndrome (OMIM 193500) is a rare disorder (1 in 40 000 live births) characterised by distinctive facial features, pigmentary disturbance (white forelock, heterochromia iridis, white eyelashes, leucoderma), and cochlear deafness.1 Waardenburg-Shah syndrome combines the features of Waardenburg syndrome and Hirschsprung's disease (also called Waardenburg-Hirschsprung disease, Waardenburg syndrome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.