Article details

Asimaki et al. Journal of Cutaneous Pathology 2009;36:553-9.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP15Q673Xc.2017C>Tp.Gln673X 0/0 SCD at age 9; cardiomyopathy, plantar keratoderma, alopecia and bullous dermatosis Compound heterozygosity: DSP Q673X and DSP Q1446X. Some non-affected family members carry one of these variants. Mutation details
DSP23Q1446Xc.4336C>Tp.Gln1446X 0/0 SCD at age 9; cardiomyopathy, plantar keratoderma, alopecia and bullous dermatosis Compound heterozygosity: DSP Q673X and DSP Q1446X. Some non-affected family members carry one of these variants. Mutation details