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

by Juan Antonio García-Carmona, Matthew J. Yousefzadeh, Fernando Alarcón-Soldevilla, Eva Fages-Caravaca, Eva Fages-Caravaca, Tra L. Kieu, Mariah A. Witt, Ángel López-Ávila, Laura J. Niedernhofer, José Antonio Pérez-Vicente
Published 2021-08-01