B. Loeys, H. Dietz, A. Braverman, B. Callewaert, D. Backer et al., The revised Ghent nosology for the Marfan syndrome, Journal of Medical Genetics, vol.47, issue.7, pp.476-85, 2010.
DOI : 10.1136/jmg.2009.072785
URL : https://hal.archives-ouvertes.fr/hal-00557373

L. Faivre, G. Collod-beroud, L. Adès, E. Arbustini, A. Child et al., The new Ghent criteria for Marfan syndrome: what do they change?, Clinical Genetics, vol.6, issue.(Suppl 1), pp.433-475, 2012.
DOI : 10.1111/j.1399-0004.2011.01646.x
URL : https://hal.archives-ouvertes.fr/hal-01670114

G. Collod-béroud, L. Bourdelles, S. Ades, L. Ala-kokko, L. Booms et al., polymorphism database, Human Mutation, vol.14, issue.3, pp.199-208, 2003.
DOI : 10.1002/humu.1380110112

L. Faivre, G. Collod-beroud, B. Loeys, A. Child, C. Binquet et al., 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, The American Journal of Human Genetics, vol.81, issue.3, pp.454-66, 2007.
DOI : 10.1086/520125
URL : https://hal.archives-ouvertes.fr/inserm-00344134

H. Dietz, G. Cutting, R. Pyeritz, C. Maslen, L. Sakai et al., Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene, Nature, vol.352, issue.6333, pp.337-346, 1991.
DOI : 10.1038/352337a0

L. Karttunen, M. Raghunath, L. Lönnqvist, and L. Peltonen, A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype, Am J Hum Genet, vol.55, pp.1083-91, 1994.

B. Vries, G. Pals, R. Odink, and B. Hamel, Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome, European Journal of Human Genetics, vol.114, issue.9, pp.930-935, 2007.
DOI : 10.1017/S1120962300018631

A. De-paepe, R. Devereux, H. Dietz, R. Hennekam, and R. Pyeritz, Revised diagnostic criteria for the Marfan syndrome, American Journal of Medical Genetics, vol.104, issue.4, pp.417-443, 1996.
DOI : 10.2214/ajr.97.1.118

C. Stheneur, G. Collod-béroud, L. Faivre, J. Buyck, L. Gouya et al., Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene, European Journal of Human Genetics, vol.4, issue.9, pp.1121-1129, 2009.
DOI : 10.1136/jmg.39.1.34
URL : https://hal.archives-ouvertes.fr/inserm-00396249

J. Dunnen and S. Antonarakis, Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion, Human Mutation, vol.10, issue.1, pp.7-12, 2000.
DOI : 10.1038/ng0795-259

I. Adzhubei, S. Schmidt, L. Peshkin, V. Ramensky, A. Gerasimova et al., A method and server for predicting damaging missense mutations, Nature Methods, vol.7, issue.4, pp.248-257, 2010.
DOI : 10.1038/nmeth0410-248
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2855889/pdf

P. Kumar, S. Henikoff, and P. Ng, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm, Nature Protocols, vol.4, issue.8, pp.1073-81, 2009.
DOI : 10.1101/gr.772403

F. Desmet, D. Hamroun, M. Lalande, G. Collod-béroud, M. Claustres et al., Human Splicing Finder: an online bioinformatics tool to predict splicing signals, Nucleic Acids Research, vol.37, issue.9, p.67, 2009.
DOI : 10.1093/nar/gkp215
URL : https://hal.archives-ouvertes.fr/inserm-00396239

D. Weinstock, G. Weissenbach, J. Williams, S. Woodage, T. Worley et al., The genome sequence of Drosophila melanogaster, Science, vol.287, pp.2185-95, 2000.

G. Yeo and C. Burge, Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals, Journal of Computational Biology, vol.11, issue.2-3, pp.377-94, 2004.
DOI : 10.1089/1066527041410418

A. Khan, H. Bolz, and C. Bergmann, Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation, Journal of American Association for Pediatric Ophthalmology and Strabismus, vol.18, issue.2, pp.134-143, 2014.
DOI : 10.1016/j.jaapos.2013.11.012

Y. Hilhorst-hofstee, M. Rijlaarsdam, A. Scholte, M. Swart-van-den-berg, M. Versteegh et al., The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family, Human Mutation, vol.31, issue.12, pp.1915-1942, 2010.
DOI : 10.1002/humu.21372
URL : https://hal.archives-ouvertes.fr/hal-00613753

J. Hogue, C. Lee, A. Jelin, M. Strecker, V. Cox et al., missense mutation causes a severe Marfan syndrome phenotype, Clinical Genetics, vol.96, issue.4, pp.392-395, 2013.
DOI : 10.1073/pnas.96.7.3819

F. Dijk, B. Hamel, Y. Hilhorst-hofstee, B. Mulder, J. Timmermans et al., Compound-heterozygous Marfan syndrome, European Journal of Medical Genetics, vol.52, issue.1, pp.1-5, 2009.
DOI : 10.1016/j.ejmg.2008.11.004

M. Tiecke, F. Booms, P. Göldner, B. Rosenberg, T. Fuchs et al., Clustering of mutations associated with mild Marfan-like phenotypes in the 3 0 region of FBN1 suggests a potential genotype-phenotype correlation, Am J Med Genet, vol.91, pp.212-233, 2000.

D. Milewicz, J. Grossfield, S. Cao, C. Kielty, W. Covitz et al., A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome., Journal of Clinical Investigation, vol.95, issue.5, pp.2373-2381, 1995.
DOI : 10.1172/JCI117930

S. Buoni, R. Zannolli, F. Macucci, S. Ansaldi, M. Grasso et al., The FBN1 (R2726W) mutation is not fully penetrant, Annals of Human Genetics, vol.57, issue.6, pp.633-641, 2004.
DOI : 10.1007/978-1-4899-0522-2_8
URL : http://onlinelibrary.wiley.com/doi/10.1046/j.1529-8817.2004.00113.x/pdf