Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families
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DOI: 10.3390/genes13030543
Abstract: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by severe sensitivity of skin to sunlight and an increased risk of skin cancer. XP variant (XPV), a milder subtype, is caused by variants… read more here.
Keywords: consanguineous pakistani; xeroderma pigmentosum; frameshift; polh gene ... See more keywords