International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

doi:10.1161/CIRCGENETICS.116.001485

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Article

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

Circulation. Cardiovascular genetics - 1 Dec 2016

Jondeau Guillaume, Ropers Jacques, Regalado Ellen, Braverman Alan, Evangelista Arturo, Teixedo Guisela, De Backer Julie, Muiño-Mosquera Laura, Naudion Sophie, Zordan Cecile, Morisaki Takayuki, Morisaki Hiroto, Von Kodolitsch Yskert, Dupuis-Girod Sophie, Morris Shaine A, Jeremy Richmond, Odent Sylvie, Adès Leslie C, Bakshi Madhura, Holman Katherine, LeMaire Scott, Milleron Olivier, Langeois Maud, Spentchian Myrtille, Aubart Melodie, Boileau Catherine, Pyeritz Reed, Milewicz Dianna M

Abstract excerpt

BACKGROUND: The natural history of aortic diseases in patients with TGFBR1 or TGFBR2 mutations reported by different investigators has varied greatly. In particular, the current recommendations for the timing of surgical repair of the aortic root aneurysms may be overly aggressive. METHODS AND RESULTS: The Montalcino Aortic Consortium, which includes 15 centers worldwide that specialize in heritable thoracic...

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Identifiers

PMID: 27879313
DOI: 10.1161/CIRCGENETICS.116.001485
PMCID: PMC5177493

Genes

TGFBR2
TGFBR1

Provenance

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