Ontology highlight
ABSTRACT:
SUBMITTER: Bondurand N
PROVIDER: S-EPMC3421117 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Bondurand Nadége N Fouquet Virginie V Baral Viviane V Lecerf Laure L Loundon Natalie N Goossens Michel M Duriez Benedicte B Labrune Philippe P Pingault Veronique V
European journal of human genetics : EJHG 20120229 9
Waardenburg syndrome type 4 (WS4) is a rare neural crest disorder defined by the combination of Waardenburg syndrome (sensorineural hearing loss and pigmentation defects) and Hirschsprung disease (intestinal aganglionosis). Three genes are known to be involved in this syndrome, that is, EDN3 (endothelin-3), EDNRB (endothelin receptor type B), and SOX10. However, 15-35% of WS4 remains unexplained at the molecular level, suggesting that other genes could be involved and/or that mutations within kn ...[more]