title: A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family.
authors.forename: M
authors.initials: M
authors.lastname: Bandettini di Poggio
authors.forename: S
authors.initials: S
authors.lastname: Gagliardi
authors.forename: M
authors.initials: M
authors.lastname: Pardini
authors.forename: E
authors.initials: E
authors.lastname: Marchioni
authors.forename: M
authors.initials: M
authors.lastname: Monti Bragadin
authors.forename: L
authors.initials: L
authors.lastname: Reni
authors.forename: L
authors.initials: L
authors.lastname: Doria-Lamba
authors.forename: L
authors.initials: L
authors.lastname: Roccatagliata
authors.forename: M
authors.initials: M
authors.lastname: Ceroni
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: C
authors.initials: C
authors.lastname: Cereda
mesh_terms: D000595:Amino Acid Sequence; D010244:Bulbar Palsy, Progressive / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human