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CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

  • Sohela Shah,

    Affiliation Liver Center Laboratory, Department of Medicine, University of California San Francisco, San Francisco, California, United States of America

  • Laura K. Conlin,

    Affiliation Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

  • Luis Gomez,

    Affiliation Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

  • Øystein Aagenaes,

    Affiliation Oslo University Hospital, Oslo, Norway

  • Kristin Eiklid,

    Affiliation Department of Medical Genetics, Oslo University Hospital, Ullevål, Oslo, Norway

  • A. S. Knisely,

    Affiliation Institute of Liver Studies, King’s College Hospital, London, United Kingdom

  • Michael T. Mennuti,

    Affiliation Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

  • Randolph P. Matthews,

    Affiliation Division of Gastroenterology, Hepatology,and Nutrition, Children’s Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

  • Nancy B. Spinner,

    Affiliation Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

  • Laura N. Bull

    lbull@medsfgh.ucsf.edu

    Affiliations Liver Center Laboratory, Department of Medicine, University of California San Francisco, San Francisco, California, United States of America, Institute for Human Genetics, Department of Medicine, University of California San Francisco, San Francisco, California, United States of America

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