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

por 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
Publicado 2021