Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family.

Bandettini di Poggio M, Gagliardi S, Pardini M, Marchioni E, Monti Bragadin M, Reni L, Doria-Lamba L, Roccatagliata L, Ceroni M, Schenone A, Cereda C. A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. Eur J Neurol. 2013 Jul; 20(7):e94-5.

View in: PubMed

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.