Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome

Annals of Clinical and Laboratory Science

Volumn 43, Issue 4, 2013, Pages 450-456

  Kim, Suk Ran ^a   Kim, Hee Jin ^a   Kim, Yae Jean ^a   Kwon, Jeong Yi ^a   Kim, Jong Won ^a   Kim, Sun Hee ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

CREBBP gene; Gene deletion; Genetic; Rubinstein Taybi syndrome; Translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 16P; CHROMOSOME 1P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CREBBP GENE; GENE; GENE DISRUPTION; GENE DOSAGE; GENE REARRANGEMENT; GENOME ANALYSIS; HETEROZYGOSITY; HUMAN; INFANT; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME 1; CHROMOSOME 16; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE TRANSLOCATION; GENETIC PREDISPOSITION; GENETICS; NEWBORN; PATHOLOGY; SOUTH KOREA;

CREBBP PROTEIN, HUMAN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN;

CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 16; CREB-BINDING PROTEIN; GENE DELETION; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; REPUBLIC OF KOREA; RUBINSTEIN-TAYBI SYNDROME; TRANSLOCATION, GENETIC;

EID: 84889033185     PISSN: 00917370     EISSN: 15508080     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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