Inactivating mutations in TGFBR2, encoding the transforming growth factor-β (TGFβ) type 2 receptor, may account for up to 10% of cases of Marfan syndrome. This finding has implications for a wider spectrum of disorders, including cancer, fibrosis and inflammatory and cardiovascular diseases, which are influenced by TGFβ.
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Akhurst, R. TGFβ signaling in health and disease. Nat Genet 36, 790–792 (2004). https://doi.org/10.1038/ng0804-790
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DOI: https://doi.org/10.1038/ng0804-790
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