Seborrhea-like dermatitis with psoriasiform elements
OMIM:610227Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the skin and subcutaneous tissue
Mutations
| Gene Symbol | ZNF750 |
|---|---|
| Reference transcript | NM_024702.2 |
| DNA Change | c.55_56dupCC |
| A.A. Change | p.Gly20GlnfsX26 |
| Exon/Intron | exon 2 |
| Mutation Type | duplication |
| Reference | Birnbaum RY, Zvulunov A, Hallel-Halevy D, Cagnano E, Finer G, Ofir R, Geiger D, Silberstein E, Feferman Y, Birk OS.Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein. Nat Genet. 2006 Jul;38(7):749-51. |