Ontology highlight
ABSTRACT:
SUBMITTER: Read AP
PROVIDER: S-EPMC1051028 | biostudies-other | 1997 Aug
REPOSITORIES: biostudies-other
Journal of medical genetics 19970801 8
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homoz ...[more]