title: New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.
authors.forename: K T
authors.initials: KT
authors.lastname: Suzuki
authors.forename: L C
authors.initials: LC
authors.lastname: Torres
authors.forename: S M M
authors.initials: SM
authors.lastname: Sugayama
authors.forename: B da Costa
authors.initials: Bda C
authors.lastname: Aguiar Alves
authors.forename: C A
authors.initials: CA
authors.lastname: Moreira-Filho
authors.forename: M
authors.initials: M
authors.lastname: Carneiro-Sampaio
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D001938:Brazil; D050882:CREB-Binding Protein; D002648:Child; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics* / Q000473:pathology; D017384:Sequence Deletion; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D050882:CREB-Binding Protein; C494363:CREBBP protein, human