Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

Br J Dermatol. 2016 Feb;174(2):444-8. doi: 10.1111/bjd.14079. Epub 2015 Nov 19.

N A Schlipf¹, A Vahlquist², N Teigen³, M Virtanen², A Dragomir⁴, S Fismen⁵, M Barenboim^{1

6

7}, T Manke⁶, B Rösler¹, A Zimmer¹, J Fischer¹

¹ Institute of Human Genetics, University Medical Center of Freiburg, Breisacher Straße 33, 79106 Freiburg, Germany.
² Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
³ Department of Dermatology, University Hospital of North Norway, Tromsø, Norway.
⁴ Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
⁵ Department of Pathology, University Hospital of North Norway, Tromsø, Norway.
⁶ Max Planck Institute of Immunobiology and Epigenetics, Bioinformatics Unit, Freiburg, Germany.
⁷ Klinikum Rechts der Isar, Department of Medicine II, Technische Universität München, München, Germany.

No abstract available

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