Three years after MADH4 (also known as SMAD4) was identified as a gene critical to juvenile polyposis, BMPR1A, encoding a receptor in the same pathway, has been identified as another susceptibility gene. The TGFβ/BMP superfamily of molecules has not only been shown to be defective in neoplasia but also in the non-cancer developmental syndromes primary pulmonary hypertension and hereditary hemorrhagic telangiectasia.
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Eng, C. To be or not to BMP. Nat Genet 28, 105–107 (2001). https://doi.org/10.1038/88802
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DOI: https://doi.org/10.1038/88802
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