Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome

[1]  P. Brennan Revised diagnostic criteria for Marfan syndrome. , 2011, The journal of the Royal College of Physicians of Edinburgh.

[2]  E. Arbustini,et al.  Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands , 2008, Journal of Medical Genetics.

[3]  D. Judge,et al.  Marfan's syndrome , 2005, The Lancet.

[4]  L. Tavazzi,et al.  Identification of sixty‐two novel and twelve known FBN1 mutations in eighty‐one unrelated probands with Marfan syndrome and other fibrillinopathies , 2005, Human mutation.

[5]  R E Pyeritz,et al.  Revised diagnostic criteria for the Marfan syndrome. , 1996, American journal of medical genetics.

[6]  H. Tulczynska [Marfan's syndrome]. , 1953, Pediatria polska.

[7]  R. Punnett,et al.  The journal of genetics , 1910, Zeitschrift für Induktive Abstammungs- und Vererbungslehre.