An ACVR1R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.
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| Title: | An ACVR1R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva. |
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| Authors: | Kaplan FS; Department of Orthopaedic Surgery, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; The Center for Research in FOP & Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Groppe JC; Department of Biomedical Sciences, Texas A&M University College of Dentistry, Dallas, Texas, USA., Xu M; Department of Orthopaedic Surgery, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; The Center for Research in FOP & Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Towler OW; Department of Orthopaedic Surgery, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; The Center for Research in FOP & Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Grunvald E; Division of General Internal Medicine, The Department of Medicine, The University of California San Diego, San Diego, California, USA., Kalunian K; Division of Rheumatology, Allergy and Immunology, The Department of Medicine, UC San Diego School of Medicine, La Jolla, California, USA., Kallish S; The Center for Research in FOP & Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Translational Medicine and Human Genetics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Al Mukaddam M; Department of Orthopaedic Surgery, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; The Center for Research in FOP & Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pignolo RJ; The Department of Medicine, The Mayo Clinic, Rochester, Minnesota, USA., Shore EM; Department of Orthopaedic Surgery, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; The Center for Research in FOP & Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Genetics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 806-817. Date of Electronic Publication: 2021 Dec 02. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62585 |
