Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Author:

Faivre L.,Collod-Beroud G.,Loeys B.L.,Child A.,Binquet C.,Gautier E.,Callewaert B.,Arbustini E.,Mayer K.,Arslan-Kirchner M.,Kiotsekoglou A.,Comeglio P.,Marziliano N.,Dietz H.C.,Halliday D.,Beroud C.,Bonithon-Kopp C.,Claustres M.,Muti C.,Plauchu H.,Robinson P.N.,Adès L.C.,Biggin A.,Benetts B.,Brett M.,Holman K.J.,De Backer J.,Coucke P.,Francke U.,De Paepe A.,Jondeau G.,Boileau C.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference49 articles.

1. Marfan syndrome: current and future clinical and genetic management of cardiovascular manifestations;Pyeritz;Semin Thorac Cardiovasc Surg,1993

2. Marfan’s syndrome;Judge;Lancet,2005

3. International nosology of heritable disorders of connective tissue, Berlin, 1986;Beighton;Am J Med Genet,1988

4. Revised diagnostic criteria for the Marfan syndrome;De Paepe;Am J Med Genet,1996

5. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene;Dietz;Nature,1991

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