Ontology highlight
ABSTRACT:
SUBMITTER: Doubaj Y
PROVIDER: S-EPMC4369116 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Doubaj Yassamine Y Pingault Véronique V Elalaoui Siham C SC Ratbi Ilham I Azouz Mohamed M Zerhouni Hicham H Ettayebi Fouad F Sefiani Abdelaziz A
Molecular syndromology 20150128 1
Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital disorder. Mutations in the EDNRB and EDN3 genes are responsible for the autosomal recessive form of SWS, ...[more]