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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Syndromol
Prif Awduron: Doubaj, Yassamine, Pingault, Véronique, Elalaoui, Siham C., Ratbi, Ilham, Azouz, Mohamed, Zerhouni, Hicham, Ettayebi, Fouad, Sefiani, Abdelaziz
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2015
Pynciau:
Case Report
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg