Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Maria Joao Malaquias,Luis Braz,Claudia Santos Silva,Joana Damasio,Andre Jorge,Joao M. Lemos,Catarina F. Campos,Daniela Garcez,Miguel Oliveira Santos,Ana G. Velon,Andre Caetano,Margarida Calejo,Preza Fernandes, Angela Rego,Sandra Castro,Ana P. Sousa,Marcio Neves Cardoso,Marco Fernandes,Miguel M. Pinto,Ricardo Taipa,Ana M. Lopes,Jorge Oliveira,Marina Magalhaes NEUROLOGY-CLINICAL PRACTICE（2023）
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