Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

• Eva Müller ,

  Contributed equally to this work with: Eva Müller, Desiree Dunstheimer

  Affiliation Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig, Germany

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• Desiree Dunstheimer ,

  Contributed equally to this work with: Eva Müller, Desiree Dunstheimer

  Affiliation Department of Pediatrics I, Klinikum Augsburg, Augsburg, Germany

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• Jürgen Klammt,

  Affiliation Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig, Germany

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• Daniela Friebe,

  Affiliation Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig, Germany

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• Wieland Kiess ,

  * E-mail: Wieland.Kiess@medizin.uni-leipzig.de

  Affiliation Department of Pediatrics, University Hospital for Children and Adolescents, Leipzig, Germany

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• Jürgen Kratzsch,

  Affiliation Institute of Laboratory Medicine and Molecular Diagnostics, Leipzig, Germany

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• Tassilo Kruis,

  Affiliation Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig, Germany

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• Sandy Laue,

  Affiliation Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig, Germany

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• Roland Pfäffle,

  Affiliation Department of Pediatrics, University Hospital for Children and Adolescents, Leipzig, Germany

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• Tillmann Wallborn,

  Affiliation Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig, Germany

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• Peter H. Heidemann

  Affiliation Department of Pediatrics I, Klinikum Augsburg, Augsburg, Germany

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