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Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, Zasloff M, Morhart R, Mundlos S, Groppe J, Shore EM. Kaplan FS, et al. Among authors: connor jm. Hum Mutat. 2009 Mar;30(3):379-90. doi: 10.1002/humu.20868. Hum Mutat. 2009. PMID: 19085907 Free PMC article.
Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al.
Kaplan FS, Xu M, Feldman G, Brown M, Cho TJ, Choi IH, Connor JM, Delai PL, Economides AN, Glaser DL, Groppe J, Katagiri T, Le Merrer M, Morhart R, Ravazzolo R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Shore EM. Kaplan FS, et al. Among authors: connor jm. Genet Couns. 2008;19(3):357-9; author reply 361-3. Genet Couns. 2008. PMID: 18990993 No abstract available.
197 results