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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Soares, Izadora Fonseca Zaiden, Christofolini, Denise Maria, Silva, Lis Gomes, Feder, David, de Siqueira Carvalho, Alzira Alves
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667349/
https://www.ncbi.nlm.nih.gov/pubmed/32935933
http://dx.doi.org/10.1002/mgg3.1491

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667349/
https://www.ncbi.nlm.nih.gov/pubmed/32935933
http://dx.doi.org/10.1002/mgg3.1491

Ejemplares similares