High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

European Journal of Human Genetics

Volumn 18, Issue 7, 2010, Pages 768-775

  Gervasini, Cristina ^a   Mottadelli, Federica ^a   Ciccone, Roberto ^b   Castronovo, Paola ^a   Milani, Donatella ^c   Scarano, Gioacchino ^d   Bedeschi, Maria Francesca ^e   Belli, Serena ^f   Pilotta, Alba ^g   Selicorni, Angelo ^c   Zuffardi, Orsetta ^b   Larizza, Lidia ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c Fondazione Policlinico Mangiagalli Regina Elena   (Italy)

^d UO Genetica Medica   (Italy)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^f Consultorio Genetico APSS ^*  (Italy)

^g Ospedale Pediatrico   (Italy)

Author keywords

Array CGH; Differential diagnosis; Genomic imbalances; Genotype phenotype correlations; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; E1A ASSOCIATED P300 PROTEIN; PROTEIN; TRANSCRIPTION FACTOR TWIST; UNCLASSIFIED DRUG; ZEB2 PROTEIN;

ACROCEPHALOSYNDACTYLY; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 2Q; CHROMOSOME 3P; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC DISORDER; GROWTH DISORDER; HUMAN; INFANT; MALE; MOWAT WILSON SYNDROME; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RUBINSTEIN SYNDROME; SKELETON MALFORMATION;

EID: 77953809262     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.1     Document Type: Article

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