Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability
Kathrin Giehl(Ludwig-Maximilians-Universität München), Gertrud Eckstein(Ludwig-Maximilians-Universität München), Markus Braun‐Falco(Central Connecticut State University), Thomas Ruzicka(Ludwig-Maximilians-Universität München), Regina C. Betz(University Hospital Bonn), Tanja von Braunmühl(Ludwig-Maximilians-Universität München), Dominique Tennstedt(Cliniques Universitaires Saint-Luc), Valérie Dekeuleneer, Thomas Herzinger(Ludwig-Maximilians-Universität München), Yves Sznajer, Stefan Rapprich, P Boes, Tim M. Strom(Ludwig-Maximilians-Universität München), Nicola Wagner(Friedrich-Alexander-Universität Erlangen-Nürnberg), Hans Wolff(Ludwig-Maximilians-Universität München), Miklós Sárdy(Semmelweis University)
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