22q11.2 deletions in patients with conotruncal defects: Data from 1,610 consecutive cases

Pediatric Cardiology

Volumn 34, Issue 7, 2013, Pages 1687-1694

  Peyvandi, Shabnam ^a,b   Lupo, Philip J ^b   Garbarini, Jennifer ^a   Woyciechowski, Stacy ^a   Edman, Sharon ^a   Emanuel, Beverly S ^a   Mitchell, Laura E ^c   Goldmuntz, Elizabeth ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Congenital; Conotruncal cardiac defects; Genes; Genetic heart disease

Indexed keywords

22Q11.2 DELETION SYNDROME; AORTA ARCH ANOMALY; ARTERIAL TRUNK; ARTICLE; CHILD; CHROMOSOME 22Q; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONOTRUNCAL CARDIAC DEFECT; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC ASSOCIATION; GENETIC SCREENING; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART SINGLE VENTRICLE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; LEARNING DISORDER; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PALATOPHARYNGEAL INCOMPETENCE; PHENOTYPE; PREDICTIVE VALUE; PRESCHOOL CHILD; PULMONARY VALVE ATRESIA; PULMONARY VALVE STENOSIS; SCHOOL CHILD;

CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; PREVALENCE; PROGNOSIS; RETROSPECTIVE STUDIES; UNITED STATES;

EID: 84885387775     PISSN: 01720643     EISSN: 14321971     Source Type: Journal    
DOI: 10.1007/s00246-013-0694-4     Document Type: Article

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