Article
Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.
Molecular genetics & genomic medicine - 1 Nov 2020
Soares Izadora Fonseca Zaiden, Christofolini Denise Maria, Silva Lis Gomes, Feder David, de Siqueira Carvalho Alzira Alves
Abstract excerpt
BACKGROUND: Xeroderma pigmentosum (XP) is a rare, genetically heterogeneous, autosomal recessive disorder caused by defects in the genes involved in repairing DNA damaged by ultraviolet radiation. These defects lead to a propensity to develop skin cancer at early ages as a hallmark, and progressive neurological degeneration can be observed in around 25% of patients. Eight clinically heterogeneous groups have been...
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