Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease

American Journal of Human Genetics

Volumn 76, Issue 4, 2005, Pages 572-580

  Roelfsema, Jeroen H ^a   White, Stefan J ^a   Ariyürek, Yavuz ^a   Bartholdi, Deborah ^b   Niedrist, Dunja ^b   Papadia, Francesco ^c   Bacino, Carlos A ^d   Den Dunnen, Johan T ^a   Van Ommen, Gert Jan B ^a   Breuning, Martijn H ^a   Hennekam, Raoul C ^e   Peters, Dorien J M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Pediatric Hospital Giovanni XXIII   (Italy)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; PROTEIN P300;

ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SCREENING;

EID: 20144386935     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/429130     Document Type: Article

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