Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

[1]  T. Kurczynski,et al.  New Marfanoid syndrome with craniosynostosis. , 1987, American journal of medical genetics.

[2]  E. Haan,et al.  FBN1, TGFBR1, and the Marfan‐craniosynostosis/mental retardation disorders revisited , 2006, American journal of medical genetics. Part A.

[3]  U. Francke,et al.  The question of heterogeneity in Marfan syndrome , 1995, Nature Genetics.

[4]  A. De Paepe,et al.  Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. , 2001, Archives of internal medicine.

[5]  Wolfram Kress,et al.  A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 , 2005, Nature Genetics.

[6]  J. Weissenbach,et al.  A second locus for Marfan syndrome maps to chromosome 3p24.2–p25 , 1994, Nature Genetics.

[7]  H. Dietz,et al.  Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene. , 1991, American journal of human genetics.

[8]  S. Shete,et al.  Mutations in Transforming Growth Factor-&bgr; Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections , 2005, Circulation.

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

[10]  S. Scherer,et al.  Mapping a Locus for Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) to 3p24–25 , 2003, Circulation.

[11]  D. Milewicz,et al.  Treatment of aortic disease in patients with Marfan syndrome. , 2005, Circulation.

[12]  E. Arbustini,et al.  Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects , 2006, European Journal of Human Genetics.

[13]  Victor A. McKusick,et al.  Heritable disorders of connective tissue , 1972 .

[14]  Ada Hamosh,et al.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene , 1991, Nature.

[15]  水口 剛 Heterozygous TGFBR2 mutations in Marfan syndrome , 2005 .

[16]  C. Ki,et al.  Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys–Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome , 2005, Clinical genetics.