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Distal spinal muscular atrophy and ataxia with cerebellar atrophy in two unrelated patients; a new phenotypic variant of HRD and recessive KCS syndrome related to TBCE
Bertini, E., Sferra, A., Rizza, T., Tasca, G., D'Amico, A., Zanni, G., Barresi, S., Diodato, D., Piermarini, E., Martinelli, D., Dionisi-Vici, C., Niceta, M., Dallapiccola, B., Tartaglia, M., CompagnuVolume:
25
Language:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2015.06.138
Date:
October, 2015
File:
PDF, 210 KB
english, 2015