FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

European Journal of Human Genetics

Volumn 7, Issue 7, 1999, Pages 748-756

  Bartsch, Oliver ^a   Wagner, Annett ^a   Hinkel, Georg K ^a   Krebs, Petra ^b   Stumm, Markus ^b   Schmalenberger, Bernhard ^c   Böhm, Sabine ^d   Balci, Sevim ^e   Majewski, Frank ^f  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b OTTO VON GUERICKE UNIVERSITY   (Germany)

^c Reinhold Sigmund Medical Practice   (Germany)

^d Children's Hospital St Marien   (Germany)

^e HACETTEPE UNIVERSITY   (Turkey)

^f HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

CBP; Chromosome 16p13.3; Hypoplastic left heart; Polysplenia; Rubinstein Taybi syndrome; Submicroscopic deletion

Indexed keywords

ACCESSORY SPLEEN; ARTICLE; AUSTRIA; CHROMOSOME 16P; CLINICAL ARTICLE; COSMID; CZECH REPUBLIC; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENOTYPE; GERMANY; HUMAN; HYPOPLASIA; INFANT; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SHORT STATURE; TURKEY (REPUBLIC);

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; CREB-BINDING PROTEIN; FEMALE; GENE DELETION; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; NUCLEAR PROTEINS; RUBINSTEIN-TAYBI SYNDROME; SPLEEN; TRANS-ACTIVATORS;

EID: 0032728004     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200378     Document Type: Article

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