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Start Over Author "Bandettini di Poggio, M." Publisher wiley-blackwell
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1. A novel compound heterozygous mutation of C20orf54 gene associated with Brown- Vialetto- Van Laere syndrome in an Italian family.

Author

Bandettini di Poggio, M., Gagliardi, S., Pardini, M., Marchioni, E., Monti Bragadin, M., Reni, L., Doria ‐ Lamba, L., Roccatagliata, L., Ceroni, M., Schenone, A., and Cereda, C.

Subjects
*MOTOR neuron diseases, *FAMILIAL diseases, *FAMILIES
Abstract

A letter to the editor is presented regarding the case of an Italian family with Brown-Vialetto-Van Laere syndrome (BVVLS) which was associated by two novel heterogeous mutations of C20orf54 gene.

Published
2013
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