Congenital Heart Defects in Patients with Deletions Upstream of SOX9

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1628-1631

  Sanchez Castro, Marta ^a,b   Gordon, Christopher T ^c,d   Petit, Florence ^e   Nord, Alex S ^f,g   Callier, Patrick ^h   Andrieux, Joris ^e   Guérin, Patrice ^a,b   Pichon, Olivier ⁱ   David, Albert ⁱ   Abadie, Véronique ^d,j   Bonnet, Damien ^c   Visel, Axel ^f,g   Pennacchio, Len A ^f,g   Amiel, Jeanne ^c,d,j   Lyonnet, Stanislas ^c,d,j   Le Caignec, Cédric ^a,b,i  

^a L INSTITUT DU THORAX   (France)

^b UNIVERSITÉ DE NANTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^g U S DEPARTMENT OF ENERGY   (United States)

^h HÔPITAL DU BOCAGE   (France)

ⁱ NANTES UNIVERSITY HOSPITAL   (France)

^j Sucking and Swallowing Congenital Disorders   (France)

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Author keywords

CNV; Congenital heart defect; Copy number variant; Pierre robin sequence; SOX9

Indexed keywords

TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR SOX9;

ADULT; ANIMAL TISSUE; AORTA VALVE REGURGITATION; ARTICLE; BICUSPID AORTIC VALVE; CONGENITAL HEART MALFORMATION; EAR MALFORMATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; FALLOT TETRALOGY; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEART ATRIUM SEPTUM DEFECT; HEART RIGHT BUNDLE BRANCH BLOCK; HETEROZYGOTE; HUMAN; HYPERTELORISM; KARYOTYPING; LIP MALFORMATION; MALE; MITRAL VALVE BALLOONING; MITRAL VALVE DISEASE; MOUSE; NONHUMAN; NOSE MALFORMATION; PATHOGENESIS; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; PULMONARY ARTERY STENOSIS; PULMONARY VALVE STENOSIS; REGULATORY SEQUENCE; TRICUSPID VALVE REGURGITATION;

CNV; CONGENITAL HEART DEFECT; COPY NUMBER VARIANT; PIERRE ROBIN SEQUENCE; SOX9;

5' FLANKING REGION; ADULT; CAMPOMELIC DYSPLASIA; ENHANCER ELEMENTS, GENETIC; FEMALE; GENE ORDER; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PEDIGREE; PIERRE ROBIN SYNDROME; SEQUENCE DELETION; SOX9 TRANSCRIPTION FACTOR; YOUNG ADULT;

EID: 84887607312     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22449     Document Type: Article

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