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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: stange k. 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.
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
Stange K, Désir J, Kakar N, Mueller TD, Budde BS, Gordon CT, Horn D, Seemann P, Borck G. Stange K, et al. Orphanet J Rare Dis. 2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5. Orphanet J Rare Dis. 2015. PMID: 26105076 Free PMC article.
405 results