Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A

We aimed to determine if an adolescent patient presenting with neurological impairment has xeroderma pigmentosum (XP). For this purpose, whole-exome sequencing was performed to assess mutations in XP genes. Dermal fibroblasts were established from a skin biopsy and XPA expression determined by immun...

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Detalles Bibliográficos
Autores principales: García-Carmona, Juan Antonio, Yousefzadeh, Matthew J., Alarcón-Soldevilla, Fernando, Fages-Caravaca, Eva, Kieu, Tra L., Witt, Mariah A., López-Ávila, Ángel, Niedernhofer, Laura J., Pérez-Vicente, José Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8415299/
https://www.ncbi.nlm.nih.gov/pubmed/34484303
http://dx.doi.org/10.3389/fgene.2021.717361

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