Ontology highlight
ABSTRACT:
SUBMITTER: Sun J
PROVIDER: S-EPMC5489919 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Journal of human genetics 20170330 7
Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence of additional symptoms. Mutation of human microphthalmia-associated transcription factor (MITF) gene gives rise to WS2. Here, we identified a novel WS-associated mutation at the stop codon of MITF (p.X420Y) in a C ...[more]