ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification

• Douglas Ralph,

  Roles Data curation, Formal analysis, Investigation, Software, Writing – review & editing

  Affiliations Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America, Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America, PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America

  https://orcid.org/0000-0003-2910-1342

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• Yvonne Nitschke,

  Roles Data curation, Formal analysis, Investigation, Writing – review & editing

  Affiliation Münster University Children’s Hospital, Münster, Germany

  https://orcid.org/0000-0002-1798-9455

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• Michael A. Levine,

  Roles Data curation, Formal analysis, Investigation, Resources, Writing – review & editing

  Affiliation Division of Endocrinology and Diabetes, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

  https://orcid.org/0000-0003-0036-7809

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• Matthew Caffet,

  Roles Data curation, Formal analysis, Investigation, Writing – review & editing

  Affiliation PXE International, Inc., Damascus, Maryland, United States of America

  https://orcid.org/0000-0003-2478-3655

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• Tamara Wurst,

  Roles Data curation, Formal analysis, Investigation, Writing – review & editing

  Affiliation PXE International, Inc., Damascus, Maryland, United States of America

  https://orcid.org/0000-0002-7560-5835

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• Amir Hossein Saeidian,

  Roles Data curation, Formal analysis, Investigation, Software, Writing – review & editing

  Affiliations Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America, Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America

  https://orcid.org/0000-0003-3512-0654

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• Leila Youssefian,

  Roles Data curation, Formal analysis, Investigation, Software, Writing – review & editing

  Affiliation Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America

  https://orcid.org/0000-0002-4253-6503

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• Hassan Vahidnezhad,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America

  https://orcid.org/0000-0003-4298-9147

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• Sharon F. Terry,

  Roles Data curation, Formal analysis, Investigation, Resources, Writing – review & editing

  Affiliation PXE International, Inc., Damascus, Maryland, United States of America

  https://orcid.org/0000-0002-0452-9329

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• Frank Rutsch,

  Roles Data curation, Formal analysis, Investigation, Writing – review & editing

  Affiliation Münster University Children’s Hospital, Münster, Germany

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• Jouni Uitto,

  Roles Data curation, Formal analysis, Funding acquisition, Investigation, Resources, Writing – review & editing

  Affiliations Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America, PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America

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• Qiaoli Li

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: Qiaoli.Li@Jefferson.edu

  Affiliations Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America, PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America

  https://orcid.org/0000-0002-8495-7103

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