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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.
Haupt J, Deichsel A, Stange K, Ast C, Bocciardi R, Ravazzolo R, Di Rocco M, Ferrari P, Landi A, Kaplan FS, Shore EM, Reissner C, Seemann P. Haupt J, et al. Among authors: kaplan fs. Hum Mol Genet. 2014 Oct 15;23(20):5364-77. doi: 10.1093/hmg/ddu255. Epub 2014 May 22. Hum Mol Genet. 2014. PMID: 24852373 Free PMC article.
Reported noggin mutations are PCR errors.
Xu MQ, Shore EM, Kaplan FS. Xu MQ, et al. Among authors: kaplan fs. Am J Med Genet. 2002 Apr 22;109(2):161; author reply 163-4. doi: 10.1002/ajmg.10288. Am J Med Genet. 2002. PMID: 11977168 No abstract available.
Progressive osseous heteroplasia in the face of a child.
Faust RA, Shore EM, Stevens CE, Xu M, Shah S, Phillips CD, Kaplan FS. Faust RA, et al. Among authors: kaplan fs. Am J Med Genet A. 2003 Apr 1;118A(1):71-5. doi: 10.1002/ajmg.a.10170. Am J Med Genet A. 2003. PMID: 12605446
274 results