New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome

Clinical Genetics

Volumn 83, Issue 3, 2013, Pages 291-292

  Suzuki, K T ^a   Torres, L C ^a,b   Sugayama, S M M ^a   Aguiar Alves, B da Costa ^c   Moreira Filho, C A ^a   Carneiro Sampaio, M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO DE MEDICINA INTEGRAL PROF FERNANDO FIGUEIRA   (Brazil)

^c FACULDADE DE MEDICINA DO ABC   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; GENOMIC DNA;

BRAZIL; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; DNA SEQUENCE; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC ANALYSIS; GROWTH RETARDATION; HUMAN; KARYOTYPE; LETTER; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

ADOLESCENT; ADULT; BASE SEQUENCE; BRAZIL; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 2; CODON, NONSENSE; CREB-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE DELETION; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 84874020298     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01894.x     Document Type: Letter

References (7)

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