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Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway
Melorheostosis is a rare sclerosing dysostosis characterized by asymmetric exuberant bone formation. Recently, we reported that somatic mosaicism for MAP2K1-activating mutations causes radiographical “dripping candle wax” melorheostosis. We now report somatic SMAD3 mutations in bone lesions of four...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | J Exp Med |
|---|---|
| Prif Awduron: | , , , , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Rockefeller University Press
2020
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7201932/ https://ncbi.nlm.nih.gov/pubmed/32232430 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20191499 |
| Tagiau: |
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