Peeling skin syndrome
OMIM:270300Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | CDSN |
|---|---|
| Reference transcript | NM_001264.4 |
| DNA Change | c.754delC |
| A.A. Change | p.Pro252Leufs*38 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Mazereeuw-Hautier J, Leclerc EA, Simon M, Serre G, Jonca N.A novel mutation in CDSN causes peeling skin disease in a patient from Morocco. Br J Dermatol. 2011 Nov;165(5):1152-5. |