Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300

Journal of Medical Genetics

Volumn 44, Issue 5, 2007, Pages 327-333

  Bartholdi, Deborah ^a   Roelfsema, Jeroen H ^b   Papadia, Francesco ^c   Breuning, Martijn H ^b   Niedrist, Dunja ^a   Hennekam, Raoul C ^d   Schinzel, Albert ^a   Peters, Dorien J M ^b  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c POLICLINICO   (Italy)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

E1A ASSOCIATED P300 PROTEIN;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MALE; MALOCCLUSION; OSSIFICATION; OSTEOTOMY; PHENOTYPE; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SCHOOL CHILD; SKELETON MALFORMATION; SPECIAL EDUCATION;

ADULT; BONE AND BONES; CHILD; E1A-ASSOCIATED P300 PROTEIN; FEMALE; GENETIC HETEROGENEITY; HUMANS; MALE; MUTATION; PHENOTYPE; RUBINSTEIN-TAYBI SYNDROME;

EID: 34248328328     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.046698     Document Type: Article

References (16)

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