Congenital heart defects in oculodentodigital dysplasia: Report of two cases

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3150-3154

  Izumi, Kosuke ^a   Lippa, Andrew M ^a   Wilkens, Alisha ^a   Feret, Holly A ^a   Mcdonald Mcginn, Donna M ^a   Zackai, Elaine H ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

GJA1; Pulmonary stenosis; Ventricular septal defect

Indexed keywords

PROSTAGLANDIN E1;

ARTICLE; BLALOCK TAUSSIG SHUNT; BRAIN INFARCTION; CARDIOMEGALY; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CONGENITAL HEART MALFORMATION; DEATH; FACE DYSMORPHIA; FAILURE TO THRIVE; GENE; GJA1 GENE; HEART ARRHYTHMIA; HEART FAILURE; HEART RIGHT VENTRICLE HYPOPLASIA; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; HYPERTELORISM; INFANT; MALE; MISSENSE MUTATION; NEWBORN; OCULODENTODIGITAL SYNDROME; PALPEBRAL FISSURE; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; SEIZURE; SEQUENCE ANALYSIS; SYNDACTYLY; SYSTOLIC HEART MURMUR; TELECANTHUS; THORAX RADIOGRAPHY; TRICUSPID VALVE STENOSIS;

COLUMELLA;

GJA1; PULMONARY STENOSIS; VENTRICULAR SEPTAL DEFECT;

ABNORMALITIES, MULTIPLE; CONNEXIN 43; CRANIOFACIAL ABNORMALITIES; EYE ABNORMALITIES; FEMALE; FINGERS; FOOT DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PULMONARY VALVE STENOSIS; SYNDACTYLY; TOOTH ABNORMALITIES;

EID: 84888047172     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36159     Document Type: Article

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