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Article

Clinical features in a family with an R460H mutation in transforming growth factor β receptor 2 gene

2 Aug 2006

Abstract excerpt

OBJECTIVES: To describe the clinical findings and natural history in 22 carriers of an R460H mutation in the transforming growth factor beta receptor 2 gene (TGFbetaR2) from a five-generation kindred ascertained by familial aortic dissection. METHODS: 13 of the confirmed carriers were interviewed and examined, and information about the remaining carrier was obtained from medical records. Clinical information...

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PMID: 16885183
DOI: 10.1136/jmg.2006.042176

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