Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3115-3120

  Ta Shma, Asaf ^a   Pierri, Ciro Leonardo ^b   Stepensky, Polina ^a   Shaag, Avraham ^a   Zenvirt, Shamir ^a   Elpeleg, Orly ^a   Rein, Azaria J J T ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b UNIVERSITY OF BARI   (Italy)

Author keywords

Exome analysis; Plexin D1; Truncus arteriosus

Indexed keywords

DIGITALIS; DIURETIC AGENT;

ADULT; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; BLALOCK TAUSSIG SHUNT; CHILD; CLINICAL ARTICLE; CONGESTIVE HEART FAILURE; CONSANGUINITY; CONTROLLED STUDY; CYANOSIS; DEATH; EXOME; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GREAT VESSELS TRANSPOSITION; HEART RIGHT VENTRICLE DOUBLE OUTLET; HOMOZYGOSITY; HUMAN; INFANT; LUNG ARTERY BANDING; MISSENSE MUTATION; MUSTARD OPERATION; NEWBORN; PATENT DUCTUS ARTERIOSUS; PEDIGREE ANALYSIS; PLEXIN D1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; PULMONARY VALVE STENOSIS; SCHOOL CHILD; SEQUENCE ANALYSIS;

MUS;

EXOME ANALYSIS; PLEXIN-D1; TRUNCUS ARTERIOSUS;

ANIMALS; CELL ADHESION MOLECULES, NEURONAL; CHILD, PRESCHOOL; CHROMOSOME MAPPING; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICE; MICE, KNOCKOUT; MIDDLE AGED; MUTATION; PEDIGREE; SEMAPHORINS; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION; TRUNCUS ARTERIOSUS;

EID: 84888035313     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36194     Document Type: Article

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