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Arbustini E., Grasso M., Ansaldi S., Malattia C., Pilotto A., Porcu E. et al. 2005 Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum. Mutat. 26, 494.
De Paepe A., Devereux R. B., Dietz H. C., Hennekam R. C. and Pyeritz R. E. 1996 Revised diagnostic criteria for the Marfan syndrome. Am. J. Med. Genet. 62, 417– 426.
Faivre L., Collod-Beroud G., Child A., Callewaert B., Loeys B. L., Binquet C. et al. 2008 Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J. Med. Genet. 45, 384–390.
Judge D. P. and Dietz H. C. 2005 Marfan’s syndrome. Lancet 366, 1965–1976.
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Song Y.-H., Kim G.-H., Yoo H.-W. and Kim J.-B. 2012 Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome. J. Genet. 91, xx–xx
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SONG, YH., KIM, GH., YOO, HW. et al. Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome. J Genet 91, 233–235 (2012). https://doi.org/10.1007/s12041-012-0165-3
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DOI: https://doi.org/10.1007/s12041-012-0165-3