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A case of Brooke-Spiegler syndrome with a new mutation in the <i>CYLD</i> gene
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2006
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GeneticsImmunodeficienciesPathologyMolecular GeneticsDisease Gene IdentificationDermatologyGenetic MedicineClinical GeneticsMendelian DisorderMolecular DiagnosticsMonogenic DisordersBrooke–spiegler SyndromeInherited Metabolic DiseaseNew MutationMolecular Diagnostic TechniquesBrooke-spiegler SyndromeGenetic DisorderPathogenesisMedical GeneticsMedicineLysosomal Storage Disease
Journal Article A case of Brooke–Spiegler syndrome with a new mutation in the CYLD gene Get access W. Heinritz, W. Heinritz Institute of Human Genetics, Medical Faculty at the University of Leipzig, Philipp‐Rosenthal‐Str. 55, 04103 Leipzig, Germany *Department of Dermatology, Medical Faculty at the University of Leipzig, Stephanstr. 11, 04103 Leipzig, Germany †Institute of Pathology, Medical Faculty at the University of Leipzig, Liebigstr. 26, 04103 Leipzig, Germany Wolfram Heinritz. E‐mail: heinw@medizin.uni‐leipzig.de Search for other works by this author on: Oxford Academic Google Scholar S. Grunewald, S. Grunewald Institute of Human Genetics, Medical Faculty at the University of Leipzig, Philipp‐Rosenthal‐Str. 55, 04103 Leipzig, Germany *Department of Dermatology, Medical Faculty at the University of Leipzig, Stephanstr. 11, 04103 Leipzig, Germany †Institute of Pathology, Medical Faculty at the University of Leipzig, Liebigstr. 26, 04103 Leipzig, Germany Search for other works by this author on: Oxford Academic Google Scholar S. Strenge, S. Strenge Institute of Human Genetics, Medical Faculty at the University of Leipzig, Philipp‐Rosenthal‐Str. 55, 04103 Leipzig, Germany *Department of Dermatology, Medical Faculty at the University of Leipzig, Stephanstr. 11, 04103 Leipzig, Germany †Institute of Pathology, Medical Faculty at the University of Leipzig, Liebigstr. 26, 04103 Leipzig, Germany Search for other works by this author on: Oxford Academic Google Scholar A. Schütz, A. Schütz Institute of Human Genetics, Medical Faculty at the University of Leipzig, Philipp‐Rosenthal‐Str. 55, 04103 Leipzig, Germany *Department of Dermatology, Medical Faculty at the University of Leipzig, Stephanstr. 11, 04103 Leipzig, Germany †Institute of Pathology, Medical Faculty at the University of Leipzig, Liebigstr. 26, 04103 Leipzig, Germany Search for other works by this author on: Oxford Academic Google Scholar U.G. Froster, U.G. Froster Institute of Human Genetics, Medical Faculty at the University of Leipzig, Philipp‐Rosenthal‐Str. 55, 04103 Leipzig, Germany *Department of Dermatology, Medical Faculty at the University of Leipzig, Stephanstr. 11, 04103 Leipzig, Germany †Institute of Pathology, Medical Faculty at the University of Leipzig, Liebigstr. 26, 04103 Leipzig, Germany Search for other works by this author on: Oxford Academic Google Scholar H.J. Glander, H.J. Glander Institute of Human Genetics, Medical Faculty at the University of Leipzig, Philipp‐Rosenthal‐Str. 55, 04103 Leipzig, Germany *Department of Dermatology, Medical Faculty at the University of Leipzig, Stephanstr. 11, 04103 Leipzig, Germany †Institute of Pathology, Medical Faculty at the University of Leipzig, Liebigstr. 26, 04103 Leipzig, Germany Search for other works by this author on: Oxford Academic Google Scholar U. Paasch, U. Paasch Institute of Human Genetics, Medical Faculty at the University of Leipzig, Philipp‐Rosenthal‐Str. 55, 04103 Leipzig, Germany *Department of Dermatology, Medical Faculty at the University of Leipzig, Stephanstr. 11, 04103 Leipzig, Germany †Institute of Pathology, Medical Faculty at the University of Leipzig, Liebigstr. 26, 04103 Leipzig, Germany Search for other works by this author on: Oxford Academic Google Scholar J.C. Simon J.C. Simon Institute of Human Genetics, Medical Faculty at the University of Leipzig, Philipp‐Rosenthal‐Str. 55, 04103 Leipzig, Germany *Department of Dermatology, Medical Faculty at the University of Leipzig, Stephanstr. 11, 04103 Leipzig, Germany †Institute of Pathology, Medical Faculty at the University of Leipzig, Liebigstr. 26, 04103 Leipzig, Germany Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 154, Issue 5, 1 May 2006, Pages 992–994, https://doi.org/10.1111/j.1365-2133.2006.07142.x Published: 01 May 2006 Article history Accepted: 04 September 2005 Published: 01 May 2006
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