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ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva
Gene, 2013Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized with congenital malformations of the great toes and progressive heterotopic ossifications in the skeletal muscles and soft tissue. FOP has been associated with a specific point mutation on the ACVR1 (Activin A receptor type I) gene.
KIZILDAĞ, SEFA +4 more
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Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2022
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ACVR1 and Fibrodysplasia Ossificans Progressiva
2016Frederick S. Kaplan +2 more
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