Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

• Franz P. W. Radner ,

  Contributed equally to this work with: Franz P. W. Radner, Peter Kirchmeier, Gwang-Jin Kim

  Affiliation Institute for Human Genetics, University Medical Center Freiburg, Freiburg, Germany

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• Slaheddine Marrakchi,

  Affiliation Department of Dermatology and the Laboratory of Immunology, Hedi Chaker Hospital, Sfax University, Sfax, Tunisia

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• Peter Kirchmeier ,

  Contributed equally to this work with: Franz P. W. Radner, Peter Kirchmeier, Gwang-Jin Kim

  Affiliations Institute for Human Genetics, University Medical Center Freiburg, Freiburg, Germany, Faculty of Biology, University of Freiburg, Freiburg, Germany

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• Gwang-Jin Kim ,

  Contributed equally to this work with: Franz P. W. Radner, Peter Kirchmeier, Gwang-Jin Kim

  Affiliations Institute for Human Genetics, University Medical Center Freiburg, Freiburg, Germany, Faculty of Biology, University of Freiburg, Freiburg, Germany

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• Florence Ribierre,

  Affiliation CEA, Institut de Génomique, Centre National de Génotypage, Evry, France

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• Bourane Kamoun,

  Affiliation Department of Ophthalmology, Hedi Habib Bourguiba Hospital, Sfax University, Sfax, Tunisia

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• Leila Abid,

  Affiliation Department of Cardiology, Hedi Chaker Hospital, Sfax University, Sfax, Tunisia

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• Michael Leipoldt,

  Affiliation Institute for Human Genetics, University Medical Center Freiburg, Freiburg, Germany

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• Hamida Turki,

  Affiliation Department of Dermatology and the Laboratory of Immunology, Hedi Chaker Hospital, Sfax University, Sfax, Tunisia

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• Werner Schempp,

  Affiliation Institute for Human Genetics, University Medical Center Freiburg, Freiburg, Germany

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• Roland Heilig,

  Affiliation CEA, Institut de Génomique, Centre National de Séquencage, Genoscope, Evry, France

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• Mark Lathrop,

  Affiliations CEA, Institut de Génomique, Centre National de Génotypage, Evry, France, CEPH, Paris, France, McGill University and Génome Québec Innovation Centre, Montréal, Canada

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• Judith Fischer

  * E-mail: judith.fischer@uniklinik-freiburg.de

  Affiliations Institute for Human Genetics, University Medical Center Freiburg, Freiburg, Germany, CEA, Institut de Génomique, Centre National de Génotypage, Evry, France

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