Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Peeling skin syndrome

OMIM:270300
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolCDSN
Reference transcriptNM_001264.4
DNA Changec.754delC
A.A. Changep.Pro252Leufs*38
Exon/Intronexon 2
Mutation Typedeletion
ReferenceMazereeuw-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.