Article
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Human mutation - 1 Nov 2008
Stheneur Chantal, Collod-Béroud Gwenaëlle, Faivre Laurence, Gouya Laurent, Sultan Gilles, Le Parc Jean-Marie, Moura Bertrand, Attias David, Muti Christine, Sznajder Marc, Claustres Mireille, Junien Claudine, Baumann Clarisse, Cormier-Daire Valérie, Rio Marlène, Lyonnet Stanislas, Plauchu Henri, Lacombe Didier, Chevallier Bertrand, Jondeau Guillaume, Boileau Catherine
Abstract excerpt
TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected of being affected with Marfan syndrome or related disorders that had been referred to our laboratory for molecular...
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