García-Carmona, Juan-Antonio; Yousefzadeh, Matthew-J; Alarcón-Soldevilla, Fernando; Fages-Caravaca, Eva; Kieu, Tra-L; Witt, Maríah-A; López-Ávila, Ángel; Niedernhofer, Laura-J; Pérez-Vicente, José-Antonio
(FRONTIERS MEDIA SA, 2021-08-16)
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 ...