论文信息 - Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders - 字舞流文

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

M. Menéndez-González | A. Plasencia | Marc Corral-Juan | A. Matilla-Dueñas | I. del Castillo | M. Villamar | M. Moreno-Pelayo | María Domínguez-Ruiz | Á. Pérez-Álvarez | A. García-Martínez