Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
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Am J Med Genet A. 2009 May;149A(5):854-60. doi: 10.1002/ajmg.a.32809.
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PMID: 19353630
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