A microduplication of CBP in a patient with mental retardation and a congenital heart defect

American Journal of Medical Genetics, Part A

Volumn 143, Issue 18, 2007, Pages 2160-2164

  Thienpont, Bernard ^a   Breckpot, Jeroen ^a   Holvoet, Maureen ^a   Vermeesch, Joris R ^a   Devriendt, Koen ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

CBP; Duplication; Rubinstein taybi

Indexed keywords

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

ARTICLE; CHROMOSOME 16; CONGENITAL HEART MALFORMATION; GENE DUPLICATION; GENETICS; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; SYNDROME; TRISOMY;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 16; CREB-BINDING PROTEIN; DNA PRIMERS; GENE DUPLICATION; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; MENTAL RETARDATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SYNDROME; TRISOMY;

EID: 38449092383     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31893     Document Type: Article

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