Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
F Buket Basmanav, Günter Fritz, Gilles G Lestringant, Divya Pachat, Sabine Hoffjan, Johannes Fischer, Maria Wehner, Sabrina Wolf, Holger Thiele, Janine Altmüller, Susanne A Pulimood, Arno Rütten, Roland Kruse, Sandra Hanneken, Jorge Frank, Sumita Danda, Anette Bygum, Regina C Betz