A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome

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 me...

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Gardado en:
Detalles Bibliográficos
Publicado en:Mol Syndromol
Main Authors: Doubaj, Yassamine, Pingault, Véronique, Elalaoui, Siham C., Ratbi, Ilham, Azouz, Mohamed, Zerhouni, Hicham, Ettayebi, Fouad, Sefiani, Abdelaziz
Formato: Artigo
Idioma:Inglês
Publicado: S. Karger AG 2015
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4369116/
https://ncbi.nlm.nih.gov/pubmed/25852447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000371590
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