Waardenburg syndrome, type 4A
OMIM:277580Mode of inheritance:Multiple
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | EDNRB |
|---|---|
| Reference transcript | NM_000115.3 |
| DNA Change | c.1133A>G |
| A.A. Change | p.Asn378Ser |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | Doubaj Y, Pingault V, Elalaoui SC, Ratbi I, Azouz M, Zerhouni H, Ettayebi F, Sefiani A.A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome. Mol Syndromol. 2015 Feb;6(1):44-9. |