A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

Pathogenic variants in the XPC complex subunit, DNA damage recognition, and repair factor (XPC) are the cause of xeroderma pigmentosum, group C (MIM: 278720). Xeroderma pigmentosum is an inherited condition characterized by hypersensitivity to ultraviolet (UV) irradiation and increased risk of skin...

Descripción completa

Detalles Bibliográficos
Autores principales: Macke, Erica L., Morales-Rosado, Joel A., Gupta, Aditi, Schmitz, Christopher T., Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476405/
https://www.ncbi.nlm.nih.gov/pubmed/32843428
http://dx.doi.org/10.1101/mcs.a005165

Ejemplares similares

Ejemplares similares