Basmanav, F. Buket ; Oprisoreanu, Ana-Maria ; Pasternack, Sandra M. ; Thiele, Holger ; Fritz, Günter 
; Wenzel, Jörg ; Größer, Leopold ; Wehner, Maria ; Wolf, Sabrina ; Fagerberg, Christina ; Bygum, Anette ; Altmüller, Janine ; Rütten, Arno ; Parmentier, Laurent ; El Shabrawi-Caelen, Laila ; Hafner, Christian ; Nürnberg, Peter ; Kruse, Roland ; Schoch, Susanne ; Hanneken, Sandra ; Betz, Regina C.
; Wenzel, Jörg ; Größer, Leopold ; Wehner, Maria ; Wolf, Sabrina ; Fagerberg, Christina ; Bygum, Anette ; Altmüller, Janine ; Rütten, Arno ; Parmentier, Laurent ; El Shabrawi-Caelen, Laila ; Hafner, Christian ; Nürnberg, Peter ; Kruse, Roland ; Schoch, Susanne ; Hanneken, Sandra ; Betz, Regina C. 
Abstract
Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyper-pigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals ...
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