Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura

Affiliations

• ¹ Institute of Human Genetics, University of Bonn, Bonn, Germany.
• ² Department of Neuropathology, Neurozentrum, University of Freiburg, Freiburg, Germany.
• ³ Division of Dermatology, Tawam University Hospital, Al Ain, United Arab Emirates.
• ⁴ Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
• ⁵ Department of Human Genetics, Ruhr-University, Bochum, Germany.
• ⁶ Cologne Center for Genomics, University of Cologne, Cologne, Germany.
• ⁷ Cologne Center for Genomics, University of Cologne, Cologne, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany.
• ⁸ Department of Dermatology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
• ⁹ Laboratory of Dermatohistopathology, Friedrichshafen, Germany.
• ¹⁰ Dermatological Practice, Paderborn, Germany.
• ¹¹ Department of Dermatology, University Hospital Düsseldorf, Düsseldorf, Germany.
• ¹² Department of Dermatology, University Hospital Düsseldorf, Düsseldorf, Germany; Skin Cancer Center, University Hospital Düsseldorf, Düsseldorf, Germany.
• ¹³ Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
• ¹⁴ Institute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.