Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.
Institute of Human Genetics, University Medical Center of Freiburg, Breisacher Straße 33, 79106 Freiburg, Germany.
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Schlipf
Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
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Vahlquist
Department of Dermatology, University Hospital of North Norway, Tromsø, Norway.
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Teigen
Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
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Virtanen
Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
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Dragomir
Department of Pathology, University Hospital of North Norway, Tromsø, Norway.
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Fismen
Institute of Human Genetics, University Medical Center of Freiburg, Breisacher Straße 33, 79106 Freiburg, Germany.|Max Planck Institute of Immunobiology and Epigenetics, Bioinformatics Unit, Freiburg, Germany.|Klinikum Rechts der Isar, Department of Medicine II, Technische Universität München, München, Germany.
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Barenboim
Max Planck Institute of Immunobiology and Epigenetics, Bioinformatics Unit, Freiburg, Germany.
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Manke
Institute of Human Genetics, University Medical Center of Freiburg, Breisacher Straße 33, 79106 Freiburg, Germany.
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Rösler
Institute of Human Genetics, University Medical Center of Freiburg, Breisacher Straße 33, 79106 Freiburg, Germany.
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Zimmer
Institute of Human Genetics, University Medical Center of Freiburg, Breisacher Straße 33, 79106 Freiburg, Germany.
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Fischer
D000328:Adult; D017668:Age of Onset; D002648:Child; D003872:Dermatitis / Q000235:genetics*; D051183:Desmoglein 1 / Q000172:deficiency / Q000235:genetics*; D059472:Exome; D005808:Genes, Recessive; D055106:Genome-Wide Association Study; D006801:Humans; D006967:Hypersensitivity / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009664:Norway; D010375:Pedigree; D013577:Syndrome; D019282:Wasting Syndrome / Q000235:genetics*
C495297:DSG1 protein, human; D051183:Desmoglein 1