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Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome.
Pignolo RJ, Wang H, Kaplan FS. Pignolo RJ, et al. Among authors: Kaplan FS. Front Endocrinol (Lausanne). 2020 Jan 10;10:908. doi: 10.3389/fendo.2019.00908. eCollection 2019. Front Endocrinol (Lausanne). 2020. PMID: 31998237 Free PMC article. Review.
Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway.
Schaffer AA, Kaplan FS, Tracy MR, O'Brien ML, Dormans JP, Shore EM, Harland RM, Kusumi K. Schaffer AA, et al. Spine (Phila Pa 1976). 2005 Jun 15;30(12):1379-85. doi: 10.1097/01.brs.0000166619.22832.2c. Spine (Phila Pa 1976). 2005. PMID: 15959366
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS. Shore EM, et al. Nat Genet. 2006 May;38(5):525-7. doi: 10.1038/ng1783. Epub 2006 Apr 23. Nat Genet. 2006. PMID: 16642017
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