Ontology highlight
ABSTRACT:
SUBMITTER: Gad A
PROVIDER: S-EPMC2533638 | biostudies-literature | 2008 Jul
REPOSITORIES: biostudies-literature
Gad Alona A Laurino Mercy M Maravilla Kenneth R KR Matsushita Mark M Raskind Wendy H WH
American journal of medical genetics. Part A 20080701 14
The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in ...[more]