Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early ‐onset dementia

ConclusionThis paper describes a rare case of a patient with two novel variants in the same chromosome associated with XPV and early ‐onset dementia.

Source: Molecular Genetics & Genomic Medicine - September 15, 2020 Category: Genetics & Stem Cells Authors: Izadora Fonseca Zaiden Soares, Denise Maria Christofolini, Lis Gomes Silva, David Feder, Alzira Alves Siqueira Carvalho Tags: CLINICAL REPORT Source Type: research