Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Journal of Medical Genetics

Volumn 37, Issue 3, 2000, Pages 168-176

  Petrij, Fred ^a,b   Van Haeringen, Arie ^a   Rubinstein, Jack H ^c   Saal, Howard M ^c   Hennekam, Raoul C M ^e   Peters, Dorien J M ^a   Breuning, Martijn H ^a   Dauwerse, Hans G ^a   Blough, Ruthann I ^c   Giles, Rachel H ^a   Van der Smagt, Jasper J ^a   Wallerstein, Robert ^d   Maaswinkel Mooy, Petra D ^a   Van Karnebeek, Clara D ^e   Van Ommen, Gert B ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

CREB binding protein (CBP CREBBP); Microdeletion; Protein truncation test (PTT); Rubinstein Taybi syndrome (RTS)

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; NUCLEAR PROTEIN;

ARTICLE; CHROMATIN; CHROMOSOME 16P; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; COSMID; EXON; FACE MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE TRANSLOCATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; MOTHER; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SIGNAL TRANSDUCTION; THUMB MALFORMATION; TOE MALFORMATION; TRANSCRIPTION REGULATION;

EID: 20244366825     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.3.168     Document Type: Article

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