Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

doi:10.1161/CIRCULATIONAHA.109.887042

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Article

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

Circulation - 22 Dec 2009

Attias David, Stheneur Chantal, Roy Carine, Collod-Béroud Gwenaëlle, Detaint Delphine, Faivre Laurence, Delrue Marie-Ange, Cohen Laurence, Francannet Christine, Béroud Christophe, Claustres Mireille, Iserin Franck, Khau Van Kien Philippe, Lacombe Didier, Le Merrer Martine, Lyonnet Stanislas, Odent Sylvie, Plauchu Henri, Rio Marlène, Rossi Annick, Sidi Daniel, Steg Philippe Gabriel, Ravaud Philippe, Boileau Catherine, Jondeau Guillaume

Abstract excerpt

BACKGROUND: TGFBR2 mutations were recognized recently among patients with a Marfan-like phenotype. The associated clinical and prognostic spectra remain unclear. METHODS AND RESULTS: Clinical features and outcomes of 71 patients with a TGFBR2 mutation (TGFBR2 group) were compared with 50 age- and sex-matched unaffected family members (control subjects) and 243 patients harboring FBN1 mutations (FBN1 group)....

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Identifiers

PMID: 19996017
DOI: 10.1161/CIRCULATIONAHA.109.887042

Genes

TGFBR2
FBN1

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