title: Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.
authors.forename: R
authors.initials: R
authors.lastname: Giorda
authors.forename: A
authors.initials: A
authors.lastname: Cerritello
authors.forename: M C
authors.initials: MC
authors.lastname: Bonaglia
authors.forename: S
authors.initials: S
authors.lastname: Bova
authors.forename: G
authors.initials: G
authors.lastname: Lanzi
authors.forename: E
authors.initials: E
authors.lastname: Repetti
authors.forename: S
authors.initials: S
authors.lastname: Giglio
authors.forename: C
authors.initials: C
authors.lastname: Baschirotto
authors.forename: T
authors.initials: T
authors.lastname: Pramparo
authors.forename: L
authors.initials: L
authors.lastname: Avolio
authors.forename: R
authors.initials: R
authors.lastname: Bragheri
authors.forename: P
authors.initials: P
authors.lastname: Maraschio
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics*; D002460:Cell Line; D002675:Child, Preschool; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003072:Cognition Disorders / Q000473:pathology; D006224:Cricetinae; D003598:Cytoskeletal Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D000071821:Dystonin; D004933:Esophageal Atresia / Q000473:pathology*; D005260:Female; D020869:Gene Expression Profiling; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009132:Muscles / Q000378:metabolism; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000235:genetics; D014138:Tracheoesophageal Fistula / Q000473:pathology*; D014178:Translocation, Genetic
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C486268:DST protein, human; D000071821:Dystonin; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms