Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.
Izadora Fonseca Zaiden SoaresDenise Maria ChristofoliniLis Gomes SilvaDavid FederAlzira Alves de Siqueira CarvalhoPublished in: Molecular genetics & genomic medicine (2020)
This paper describes a rare case of a patient with two novel variants in the same chromosome associated with XPV and early-onset dementia.