title: Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Buket Basmanav
authors.affiliation: Department of Neuropathology, Neurozentrum, University of Freiburg, Freiburg, Germany.
authors.forename: Günter
authors.initials: G
authors.lastname: Fritz
authors.affiliation: Division of Dermatology, Tawam University Hospital, Al Ain, United Arab Emirates.
authors.forename: Gilles G
authors.initials: GG
authors.lastname: Lestringant
authors.affiliation: Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
authors.forename: Divya
authors.initials: D
authors.lastname: Pachat
authors.affiliation: Department of Human Genetics, Ruhr-University, Bochum, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Hoffjan
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: Johannes
authors.initials: J
authors.lastname: Fischer
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: Maria
authors.initials: M
authors.lastname: Wehner
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Wolf
authors.affiliation: Cologne Center for Genomics, University of Cologne, Cologne, Germany.
authors.forename: Holger
authors.initials: H
authors.lastname: Thiele
authors.affiliation: Cologne Center for Genomics, University of Cologne, Cologne, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany.
authors.forename: Janine
authors.initials: J
authors.lastname: Altmüller
authors.affiliation: Department of Dermatology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Pulimood
authors.affiliation: Laboratory of Dermatohistopathology, Friedrichshafen, Germany.
authors.forename: Arno
authors.initials: A
authors.lastname: Rütten
authors.affiliation: Dermatological Practice, Paderborn, Germany.
authors.forename: Roland
authors.initials: R
authors.lastname: Kruse
authors.affiliation: Department of Dermatology, University Hospital Düsseldorf, Düsseldorf, Germany.
authors.forename: Sandra
authors.initials: S
authors.lastname: Hanneken
authors.affiliation: Department of Dermatology, University Hospital Düsseldorf, Düsseldorf, Germany; Skin Cancer Center, University Hospital Düsseldorf, Düsseldorf, Germany.
authors.forename: Jorge
authors.initials: J
authors.lastname: Frank
authors.affiliation: Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
authors.affiliation: Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.
authors.forename: Regina C
authors.initials: RC
authors.lastname: Betz
mesh_terms: D000328:Adult; D005647:Fucosyltransferases / Q000235:genetics*; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D012873:Skin Diseases, Genetic / Q000235:genetics*; D017444:Skin Diseases, Papulosquamous / Q000235:genetics*
chemical_list: D005647:Fucosyltransferases; C105148:polypeptide fucosyltransferase