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Literature for OMIM 154700: MARFAN SYNDROME; MFS
Xenbase Articles:
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Xenopus fibrillin regulates directed convergence and extension.,
Skoglund P,Keller R,
Dev Biol. January 15, 2007; 301(2):1095-564X.
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A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.,
Rienhoff HY,Yeo CY,Morissette R,Melnick J,Luo S,Leng N,Schroth G,Vogel H,McDonnell N,Hall JG,Khrebtukova I,Westwick J,Whitman M,Kim YJ,
Am J Med Genet A. August 1, 2013; 161A(8):1552-4833.
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Genetic models of fibrillinopathies., Summers KM, Genetics. January 3, 2024; 226(1):1943-2631. |