Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome

American Journal of Medical Genetics

Volumn 90, Issue 1, 2000, Pages 29-34

  Blough, Ruthann I ^a,e   Petrij, Fred ^b,f   Dauwerse, Johannes G ^b   Milatovich Cherry, Athena ^c   Weiss, Lester ^d   Saal, Howard M ^a   Rubinstein, Jack H ^e  

^a CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^d HENRY FORD HOSPITAL   (United States)

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

^f ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

CBP gene; Fluorescence in situ hybridization (FISH); Haploinsufficiency; Microdeletion; Phenotype genotype correlation; Rubinstein Taybi syndrome (RTS)

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; DNA;

ARTICLE; CHROMOSOME 16P; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MAPPING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RUBINSTEIN SYNDROME;

CHROMOSOMES, HUMAN, PAIR 16; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; METAPHASE; PHENOTYPE; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 0033988241     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000103)90:1<29::AID-AJMG6>3.0.CO;2-Z     Document Type: Article

References (14)

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