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NIH researchers discover gene for rare disease of excess bone tissue growth

https://www.niams.nih.gov/newsroom/press-releases/nih-researchers-discover-gene-rare-disease-excess-bone-tissue-growth

Researchers at the National Institutes of Health have discovered a second gene that causes melorheostosis, a rare group of conditions involving an often painful and disfiguring overgrowth of bone tissue. The gene, SMAD3, is part of a pathway that regulates cell development and growth. The researchers are now working to develop an animal model with a mutant version of SMAD3 to test potential treatments for the condition. The study appears in the Journal of Experimental Medicine.

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