Article
Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.
American journal of medical genetics. Part A - 1 Sept 2017
De Palma Armando, Morren Marie-Anne, Ged Cécile, Pouvelle Caroline, Taïeb Alain, Aoufouchi Said, Sarasin Alain
Abstract excerpt
We describe the characterization of Xeroderma Pigmentosum variant (XPV) in a young Caucasian patient with phototype I, who exhibited a high sensitivity to sunburn and multiple cutaneous tumors at the age of 15 years. Two novel mutations in the POLH gene, which encodes the translesion DNA polymerase η, with loss of function due to two independent exon skippings, are reported to be associated as a compound...
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