X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

• Judith Savige ,

  * E-mail: jasavige@unimelb.edu.au

  Affiliation The University of Melbourne, Melbourne Health and Northern Health, Melbourne, Australia

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• Helen Storey,

  Affiliation Molecular Genetics Laboratory, Guy’s and St Thomas’ Hospital, London, United Kingdom

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• Hae Il Cheong,

  Affiliation Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea

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• Hee Gyung Kang,

  Affiliation Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea

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• Eujin Park,

  Affiliation Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea

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• Pascale Hilbert,

  Affiliation Institut de Pathologie et Genetique, Department of Molecular Biology, Gosselles, Belgium

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• Anton Persikov,

  Affiliation Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey, United States of America

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• Carmen Torres-Fernandez,

  Affiliation Molecular Genetics Centre GENETAQ, Malaga, Spain

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• Elisabet Ars,

  Affiliation Molecular Biology Laboratory and Department of Nephrology, REDINREN, Fundacio Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain

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• Roser Torra,

  Affiliation Molecular Biology Laboratory and Department of Nephrology, REDINREN, Fundacio Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain

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• Jens Michael Hertz,

  Affiliation Department of Clinical Genetics, Odense University Hospital, Odense, Denmark

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• Mads Thomassen,

  Affiliation Department of Clinical Genetics, Odense University Hospital, Odense, Denmark

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• Lev Shagam,

  Affiliation Institute of Pediatrics, Pirogov Russian Medical University, Moscow, Russia

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• Dongmao Wang,

  Affiliation The University of Melbourne, Melbourne Health and Northern Health, Melbourne, Australia

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• Yanyan Wang,

  Affiliation The University of Melbourne, Melbourne Health and Northern Health, Melbourne, Australia

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• Frances Flinter,

  Affiliation Department of Genetics, Guy’s and St Thomas’ Hospital, London, United Kingdom

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•  [ ... ],
• Mato Nagel

  Affiliation Centre for Nephrology and Metabolic Medicine, Weisswasser D-02943, Germany

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