Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

Genetics and Molecular Research

Volumn 12, Issue 3, 2013, Pages 2809-2815

  Cali F ^a   Failla, P ^a   Chiavetta, V ^a   Ragalmuto, A ^a   Ruggeri, G ^a   Schinocca, P ^a   Schepis, C ^a   Romano, V ^a,b   Romano, C ^a  

^a OASI RESEARCH INSTITUTE IRCCS   (Italy)

^b UNIVERSITY OF PALERMO   (Italy)

Author keywords

Comparative multiplex dosage analysis; CREB binding protein; Multiplex ligation dependent probe amplification; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; GENOMIC DNA; HISTONE ACETYLTRANSFERASE;

ARTICLE; AUTISM; AUTOSOMAL DOMINANT DISORDER; CARCINOGENESIS; CASE REPORT; CHILD; CHROMOSOME 16P; CONGENITAL DISORDER; EXON; FACE MALFORMATION; FEMALE; GENE DELETION; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; INTELLIGENCE QUOTIENT; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PERINATAL PERIOD; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; RUBINSTEIN SYNDROME; SKELETON MALFORMATION;

CHILD, PRESCHOOL; CREB-BINDING PROTEIN; FEMALE; GENE DELETION; GENETIC TESTING; HETEROZYGOTE; HUMANS; MULTIPLEX POLYMERASE CHAIN REACTION; RUBINSTEIN-TAYBI SYNDROME;

EID: 84881292715     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/2013.January.7.2     Document Type: Article

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