Mowat-Wilson syndrome
OMIM:235730Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | ZEB2 |
|---|---|
| Reference transcript | NM_014795.3 |
| DNA Change | c.1165A>T |
| A.A. Change | p.Lys389X |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Ratbi I, Elalaoui CS, Dastot-Le MF, Goossens M, Giurgea I, Sefiani A.Mowat-Wilson syndrome in a Moroccan consanguineous family. Indian J Hum Genet. 2007 Sep;13(3):122-4. |