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

Abstract 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 prog...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Izadora Fonseca Zaiden Soares, Denise Maria Christofolini, Lis Gomes Silva, David Feder, Alzira Alves deSiqueira Carvalho
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2020-11-01
Schriftenreihe:	Molecular Genetics & Genomic Medicine
Online-Zugang:	https://doi.org/10.1002/mgg3.1491
Tags:	Tag hinzufügen Keine Tags, Fügen Sie das erste Tag hinzu!