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2. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM. Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642 [Abstract] [Full Text] [Related]
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