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

Laurence Faivre; Alice Masurel-Paulet; Gwenaelle Collod-Beroud; Bert L. Callewaert; Anne H. Child; Chantal Stheneur; Christine Binquet; Elodie Gautier; Bertrand Chevallier; Frédéric Huet; Bart L. Loeys; Eloisa Arbustini; Karin Mayer; Mine Arslan-Kirchner; Anatoli Kiotsekoglou; Paolo Comeglio; Maurizia Grasso; Dorothy J. Halliday; Christophe Beroud; Claire Bonithon-Kopp; Mireille Claustres; Peter N. Robinson; Lesley Adés; Julie De Backer; Paul Coucke; Uta Francke; Anne De Paepe; Catherine Boileau; Guillaume Jondeau

doi:10.1542/peds.2008-0703

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

Laurence Faivre, Alice Masurel-Paulet, Gwenaelle Collod-Beroud, Bert L. Callewaert, Anne H. Child, Chantal Stheneur, Christine Binquet, Elodie Gautier, Bertrand Chevallier, Frédéric Huet, Bart L. Loeys, Eloisa Arbustini, Karin Mayer, Mine Arslan-Kirchner, Anatoli Kiotsekoglou, Paolo Comeglio, Maurizia Grasso, Dorothy J. Halliday, Christophe Beroud, Claire Bonithon-KoppMireille Claustres, Peter N. Robinson, Lesley Adés, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Catherine Boileau, Guillaume Jondeau

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

Abstract

From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients

Original language	English
Pages (from-to)	391-398
Number of pages	8
Journal	Pediatrics
Volume	123
Issue number	1
DOIs	https://doi.org/10.1542/peds.2008-0703
Publication status	Published - Jan 2009

Keywords

Childhood
FBN1
International criteria
Marfan syndrome

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Access to Document

10.1542/peds.2008-0703

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Faivre, L., Masurel-Paulet, A., Collod-Beroud, G., Callewaert, B. L., Child, A. H., Stheneur, C., Binquet, C., Gautier, E., Chevallier, B., Huet, F., Loeys, B. L., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Grasso, M., Halliday, D. J., Beroud, C., ... Jondeau, G. (2009). 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, 123(1), 391-398. https://doi.org/10.1542/peds.2008-0703

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. / Faivre, Laurence; Masurel-Paulet, Alice; Collod-Beroud, Gwenaelle; Callewaert, Bert L.; Child, Anne H.; Stheneur, Chantal; Binquet, Christine; Gautier, Elodie; Chevallier, Bertrand; Huet, Frédéric; Loeys, Bart L.; Arbustini, Eloisa; Mayer, Karin; Arslan-Kirchner, Mine; Kiotsekoglou, Anatoli; Comeglio, Paolo; Grasso, Maurizia; Halliday, Dorothy J.; Beroud, Christophe; Bonithon-Kopp, Claire; Claustres, Mireille; Robinson, Peter N.; Adés, Lesley; De Backer, Julie; Coucke, Paul; Francke, Uta; De Paepe, Anne; Boileau, Catherine; Jondeau, Guillaume.

In: Pediatrics, Vol. 123, No. 1, 01.2009, p. 391-398.

Research output: Contribution to journal › Article › peer-review

Faivre, L, Masurel-Paulet, A, Collod-Beroud, G, Callewaert, BL, Child, AH, Stheneur, C, Binquet, C, Gautier, E, Chevallier, B, Huet, F, Loeys, BL, Arbustini, E, Mayer, K, Arslan-Kirchner, M, Kiotsekoglou, A, Comeglio, P, Grasso, M, Halliday, DJ, Beroud, C, Bonithon-Kopp, C, Claustres, M, Robinson, PN, Adés, L, De Backer, J, Coucke, P, Francke, U, De Paepe, A, Boileau, C & Jondeau, G 2009, '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, vol. 123, no. 1, pp. 391-398. https://doi.org/10.1542/peds.2008-0703

Faivre, Laurence ; Masurel-Paulet, Alice ; Collod-Beroud, Gwenaelle ; Callewaert, Bert L. ; Child, Anne H. ; Stheneur, Chantal ; Binquet, Christine ; Gautier, Elodie ; Chevallier, Bertrand ; Huet, Frédéric ; Loeys, Bart L. ; Arbustini, Eloisa ; Mayer, Karin ; Arslan-Kirchner, Mine ; Kiotsekoglou, Anatoli ; Comeglio, Paolo ; Grasso, Maurizia ; Halliday, Dorothy J. ; Beroud, Christophe ; Bonithon-Kopp, Claire ; Claustres, Mireille ; Robinson, Peter N. ; Adés, Lesley ; De Backer, Julie ; Coucke, Paul ; Francke, Uta ; De Paepe, Anne ; Boileau, Catherine ; Jondeau, Guillaume. / 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. In: Pediatrics. 2009 ; Vol. 123, No. 1. pp. 391-398.

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