Article details

Tanaka et al. British Journal of Dermatology 2009;160:692-7.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP18L839fsX862c.2516_2519delACTCp.His839LeufsX24 0/0 DCM; Carvajal-like: wooly hair; palmoplantar keratoderma0compound heterozygote: DSP L839fsX862 and R1324fsX1347 Mutation details
DSP23R1324fsX1347c.3971_3974delATAAp.Asn1324ArgfsX24 0/0 DCM; palmoplantar keratoderma and wooly hair0compound heterozygote: DSP L839fsX862 and R1324fsX1347 Mutation details