Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

Author:

LeMaire Scott A,Pannu Hariyadarshi,Tran-Fadulu Van,Carter Stacey A,Coselli Joseph S,Milewicz Dianna M

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Reference16 articles.

1. Loeys BL et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37: 275–281

2. McKusick VA (1972) Heritable Disorders of Connective Tissue. Saint Louis, MO: The CV Mosby Company

3. De Paepe A et al. (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62: 417–426

4. Kainulainen K et al. (1991) Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene. Am J Hum Genet 49: 662–667

5. Dietz HC et al. (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352: 337–339

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