Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - A case report and review of congenital heart defects reported in the human ciliopathies

European Journal of Medical Genetics

Volumn 55, Issue 11, 2012, Pages 605-610

  Karp, Natalya ^a   Grosse Wortmann, Lars ^a   Bowdin, Sarah ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Aortic stenosis; Atrial septal defect; Bicuspid aortic valve; Ciliopathy; Congenital heart disease; Joubert Syndrome and Related Disorders

Indexed keywords

AORTA STENOSIS; BARDET BIEDL SYNDROME; BICUSPID AORTIC VALVE; CASE REPORT; CHILD; CONGENITAL HEART DISEASE; CONGENITAL HEART MALFORMATION; DISEASE SEVERITY; ECHOCARDIOGRAPHY; HEART ATRIUM SEPTUM DEFECT; HUMAN; JOUBERT SYNDROME; MALE; MEDICAL LITERATURE; PHENOTYPE; PRESCHOOL CHILD; REVIEW; TRANSLUMINAL VALVULOPLASTY;

ABNORMALITIES, MULTIPLE; AORTIC VALVE; AORTIC VALVE STENOSIS; CEREBELLAR DISEASES; CHILD, PRESCHOOL; CILIARY MOTILITY DISORDERS; EYE ABNORMALITIES; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HEART VALVE DISEASES; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; RETINA;

EID: 84867139333     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.07.010     Document Type: Review

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