Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

American Journal of Medical Genetics, Part A

Volumn 167, Issue 11, 2015, Pages 2702-2706

  Weiss, Karin ^a   Applegate, Carolyn ^b   Wang, Tao ^b   Batista, Denise A S ^b,c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Cardiac outflow tract; Congenital heart defect; Deletion 6q; Myxomatous cardiac valves; TAB2

Indexed keywords

PROTEIN TAB2; TRANSFORMING GROWTH FACTOR BETA ACTIVATED KINASE 1; UNCLASSIFIED DRUG; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TAB2 PROTEIN, HUMAN;

ARTICLE; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; FALLOT TETRALOGY; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FETUS ECHOGRAPHY; GENE MICRODELETION; GENE MUTATION; GENETIC ASSOCIATION; GENOME SIZE; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HAPLOINSUFFICIENCY; HEART ATRIUM SEPTUM DEFECT; HEART SURGERY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MICROARRAY ANALYSIS; MITRAL VALVE PROLAPSE; MUTATIONAL ANALYSIS; MYXOMATOUS CARDIAC VALVE; PATENT FORAMEN OVALE; PENETRANCE; PRIORITY JOURNAL; PULMONARY VALVE REPLACEMENT; TAB2 GENE; VALVULAR HEART DISEASE; ABNORMALITIES; ADOLESCENT; ADULT; AGED; CASE REPORT; CHROMOSOME DELETION; COMPLICATION; FAMILY; GENETICS; HEART VALVE; NEWBORN; PEDIGREE; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; CHILD, PRESCHOOL; CHROMOSOME DELETION; FAMILY; FEMALE; HEART DEFECTS, CONGENITAL; HEART VALVES; HUMANS; INFANT, NEWBORN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TETRALOGY OF FALLOT;

EID: 84947019388     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37210     Document Type: Article

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