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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.
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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  Data: An ACVR1<superscript>R375P</superscript> pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.
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  Data: <searchLink fieldCode="AU" term="%22Kaplan+FS%22">Kaplan FS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Groppe+JC%22">Groppe JC</searchLink>; Department of Biomedical Sciences, Texas A&M University College of Dentistry, Dallas, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Xu+M%22">Xu M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Towler+OW%22">Towler OW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Grunvald+E%22">Grunvald E</searchLink>; Division of General Internal Medicine, The Department of Medicine, The University of California San Diego, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Kalunian+K%22">Kalunian K</searchLink>; Division of Rheumatology, Allergy and Immunology, The Department of Medicine, UC San Diego School of Medicine, La Jolla, California, USA.<br /><searchLink fieldCode="AU" term="%22Kallish+S%22">Kallish S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Al+Mukaddam+M%22">Al Mukaddam M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pignolo+RJ%22">Pignolo RJ</searchLink>; The Department of Medicine, The Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Shore+EM%22">Shore EM</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 806-817. <i>Date of Electronic Publication: </i>2021 Dec 02.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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              Text: 2022 Mar
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