NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

por Elsaid, Mahmoud F., Ibrahim, Khalid, Chalhoub, Nader, Elsotouhy, Ahmed, El Mudehki, Noora, Abdel Aleem, Alice
Publicado 2017