Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 854-860

  Faivre, L ^a,s   Collod Beroud, G ^b,c   Callewaert, B ^d   Child, A ^e   Loeys, B L ^d,f   Binquet, C ^a,b   Gautier, E ^a,b   Arbustini, E ^g   Mayer, K ^h   Arslan Kirchner, M ⁱ   Kiotsekoglou, A ^f   Comeglio, P ^f   Grasso, M ^g   Beroud, C ^b,c,j   Bonithon Kopp, C ^a,b   Claustres, M ^b,c,j   Stheneur, C ^k,l   Bouchot, O ^m   Wolf, J E ^a   Robinson, P N ⁿ   Ades, L ^o,p   De Backer, J ^d   Coucke, P ^d   Francke, U ^q   De Paepe, A ^d   Boileau, C ^k,l,r   Jondeau, G ^r   more..

^a DIJON UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c UNIV MONTPELLIER   (France)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e ST GEORGE S HOSPITAL   (United Kingdom)

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

^g FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^h Center for Human Genetics and Laboratory Medicine   (Germany)

ⁱ Institut fur Humangenetik   (Germany)

^j HÔPITAL ARNAUD DE VILLENEUVE   (France)

^k HÔPITAL AMBROISE PARÉ   (France)

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

^m HÔPITAL DU BOCAGE   (France)

ⁿ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^o CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^p UNIVERSITY OF SYDNEY   (Australia)

^q STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^r BICHAT HOSPITAL   (France)

^s Medical University of Dijon   (France)

more..

Author keywords

Fbn1 gene; International criteria; Marfan syndrome; Type i fibrillinopathy

Indexed keywords

CYSTEINE; FIBRILLIN;

ADULT; ARTERY DILATATION; ARTICLE; BONE DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ECTOPIA LENTIS; EXON; FBN1 GENE; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; MARFAN SYNDROME; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; TYPE 1 FIBRILLINOPATHY;

ADULT; COHORT STUDIES; ECTOPIA LENTIS; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE;

EID: 66849122587     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32809     Document Type: Article

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