Clinical and molecular study of 320 children with marfan syndrome and related type i fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Pediatrics

Volumn 123, Issue 1, 2009, Pages 391-398

  Faivre, Laurence ^a,t   Masurel Paulet, Alice ^a   Collod Beroud, Gwenaelle ^a,b   Callewaert, Bert L ^a   Child, Anne H ^c   Stheneur, Chantal ^d   Binquet, Christine ^a,e   Gautier, Elodie ^a,e   Chevallier, Bertrand ^d   Huet, Frédéric ^a   Loeys, Bart L ^a,f,g   Arbustini, Eloisa ^h   Mayer, Karin ⁱ   Arslan Kirchner, Mine ^j   Kiotsekoglou, Anatoli ^d   Comeglio, Paolo ^d   Grasso, Maurizia ^h   Halliday, Dorothy J ^k   Beroud, Christophe ^a,b,l   Bonithon Kopp, Claire ^a,e   Claustres, Mireille ^a,b,l   Robinson, Peter N ^m   Adés, Lesley ^n,o,p   De Backer, Julie ^a   Coucke, Paul ^a   Francke, Uta ^q   De Paepe, Anne ^a   Boileau, Catherine ^r   Jondeau, Guillaume ^s   more..

^a DIJON UNIVERSITY HOSPITAL   (France)

^b UNIV MONTPELLIER   (France)

^c ST GEORGE S HOSPITAL   (United Kingdom)

^d Pediatric Service   (France)

^e INSERM   (France)

^f JOHNS HOPKINS UNIVERSITY   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

ⁱ Center for Human Genetics   (Germany)

^j Institute for Human Genetics   (Germany)

^k UNIVERSITY OF OXFORD   (United Kingdom)

^l HÔPITAL ARNAUD DE VILLENEUVE   (France)

^m CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

ⁿ Marfan Research Group   (Australia)

^o CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^p UNIVERSITY OF SYDNEY   (Australia)

^q STANFORD UNIVERSITY MEDICAL CENTER   (United States)

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

^s BICHAT HOSPITAL   (France)

^t Medical University of Dijon   (France)

more..

Author keywords

Childhood; FBN1; International criteria; Marfan syndrome

Indexed keywords

ADULT; ARTICLE; ASCENDING AORTA SURGERY; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DURAL ECTASIA; ECTOPIA LENTIS; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GROUPS BY AGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MITRAL VALVE DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON; ADOLESCENT; COMPARATIVE STUDY; GENETIC SCREENING; GENETICS; METHODOLOGY; MUTATION; PATHOLOGY;

ACTIN BINDING PROTEIN; FIBRILLIN;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; GENETIC SCREENING; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION;

EID: 59449108914     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2008-0703     Document Type: Article

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