Hypotrichosis 6
OMIM:607903Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | DSG4 |
|---|---|
| Reference transcript | NM_001134453.1 |
| DNA Change | c.865C>T |
| A.A. Change | p.Arg289Stop |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E.An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1292-6. |