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[Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late].
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Activin-A Induces Fewer, but Larger Osteoclasts From Monocytes in Both Healthy Controls and Fibrodysplasia Ossificans Progressiva Patients.
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Inhibition of phosphatidylinositol 3-kinase α (PI3Kα) prevents heterotopic ossification.
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本文引用的文献
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ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.
Hum Mol Genet. 2014 Oct 15;23(20):5364-77. doi: 10.1093/hmg/ddu255. Epub 2014 May 22.
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Circumscribed myositis ossificans of the masseter muscle: report of a case.
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Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons.
Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2(0 2):437-48.
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Fibrodysplasia ossificans progressiva: clinical and genetic aspects.
Orphanet J Rare Dis. 2011 Dec 1;6:80. doi: 10.1186/1750-1172-6-80.
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Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.
Am J Med Genet A. 2011 Jun;155A(6):1492-5. doi: 10.1002/ajmg.a.34003. Epub 2011 May 12.
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Investigations of activated ACVR1/ALK2, a bone morphogenetic protein type I receptor, that causes fibrodysplasia ossificans progressiva.
Methods Enzymol. 2010;484:357-73. doi: 10.1016/B978-0-12-381298-8.00018-6.
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Inherited human diseases of heterotopic bone formation.
Nat Rev Rheumatol. 2010 Sep;6(9):518-27. doi: 10.1038/nrrheum.2010.122. Epub 2010 Aug 10.
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Fibrodysplasia ossificans progressiva (FOP): watch the great toes!
Eur J Pediatr. 2010 Nov;169(11):1417-21. doi: 10.1007/s00431-010-1232-5. Epub 2010 Jun 26.
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Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva.
J Bone Joint Surg Am. 2010 Mar;92(3):686-91. doi: 10.2106/JBJS.I.00705.
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The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signaling.
Cytokine Growth Factor Rev. 2009 Oct-Dec;20(5-6):399-407. doi: 10.1016/j.cytogfr.2009.10.006. Epub 2009 Nov 6.
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