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ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Ralph, Douglas; Nitschke, Yvonne; Levine, Michael A; Caffet, Matthew; Wurst, Tamara; Saeidian, Amir Hossein; Youssefian, Leila; Vahidnezhad, Hassan; Terry, Sharon F; Rutsch, Frank; Uitto, Jouni; Li, Qiaoli.
Afiliação
  • Ralph D; 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.
  • Nitschke Y; Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
  • Levine MA; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
  • Caffet M; Münster University Children's Hospital, Münster, Germany.
  • Wurst T; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.
  • Saeidian AH; PXE International, Inc., Damascus, Maryland, United States of America.
  • Youssefian L; PXE International, Inc., Damascus, Maryland, United States of America.
  • Vahidnezhad H; 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.
  • Terry SF; Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
  • Rutsch F; 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.
  • Uitto J; 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.
  • Li Q; PXE International, Inc., Damascus, Maryland, United States of America.
PLoS Genet ; 18(4): e1010192, 2022 04.
Article em En | MEDLINE | ID: mdl-35482848
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudoxantoma Elástico / Calcificação Vascular Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudoxantoma Elástico / Calcificação Vascular Idioma: En Ano de publicação: 2022 Tipo de documento: Article