TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

Nature Genetics

Volumn 44, Issue 8, 2012, Pages 916-921

  Boileau, Catherine ^a,b   Guo, Dong Chuan ^d   Hanna, Nadine ^a,b   Regalado, Ellen S ^d   Detaint, Delphine ^a   Gong, Limin ^d   Varret, Mathilde ^a   Prakash, Siddharth K ^d,e   Li, Alexander H ^d   D'Indy, Hyacintha ^a,b   Braverman, Alan C ^f   Grandchamp, Bernard ^a,g   Kwartler, Callie S ^d   Gouya, Laurent ^a,c   Santos Cortez, Regie Lyn P ^h   Abifadel, Marianne ^a   Leal, Suzanne M ^h   Muti, Christine ^a   Shendure, Jay ⁱ   Gross, Marie Sylvie ^a   Rieder, Mark J ⁱ   Vahanian, Alec ^a,g   Nickerson, Deborah A ⁱ   Michel, Jean Baptiste ^a   Jondeau, Guillaume ^a,g,j   Milewicz, Dianna M ^d,e   more..

^a BICHAT HOSPITAL   (France)

^b HÔPITAL AMBROISE PARÉ   (France)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^e Memorial Hermann Heart and Vascular Institute   (United States)

^f WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ UNIVERSITY OF WASHINGTON   (United States)

^j ST LUKE S EPISCOPAL HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SMAD2 PROTEIN; SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA1; TRANSFORMING GROWTH FACTOR BETA2; TRANSFORMING GROWTH FACTOR BETA3;

ADULT; ANEURYSM RUPTURE; AORTA DISSECTION; ARTICLE; CEREBROVASCULAR DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOKINE PRODUCTION; DISEASE ASSOCIATION; DISEASE DURATION; DISEASE PREDISPOSITION; DURAL ECTASIA; EXON; FAMILIAL DISEASE; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; HAPLOINSUFFICIENCY; HERNIA; HUMAN; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; MALE; MARFAN SYNDROME; MITRAL VALVE PROLAPSE; NONSENSE MUTATION; PNEUMOTHORAX; PRIORITY JOURNAL; PROTEIN EXPRESSION; THORACIC AORTA ANEURYSM; TRANSLATION REGULATION;

EID: 84864411184     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2348     Document Type: Article

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