Xeroderma Pigmentosum, Complementation Group E - CISMeF
Xeroderma Pigmentosum, Complementation Group ENCIt concept
Preferred Label : Xeroderma Pigmentosum, Complementation Group E;
NCIt synonyms : XP-E; Xeroderma Pigmentosum Group E;
NCIt definition : An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This
disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum
complementation groups, although individuals are at high risk for skin cancer.;