Publication
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
F. Buket Ü. Basmanav, Laura Cau, Aylar Tafazzoli, Marie-Claire Méchin, Sabrina Wolf, Maria Teresa Romano, Frederic Valentin, Henning Wiegmann, Anne Huchenq, Rima Kandil, Natalie Garcia Bartels, Arzu Kilic, Susannah George, Damian J. Ralser, Stefan Bergner, David J.P. Ferguson, Ana-Maria Oprisoreanu, Maria Wehner, Holger Thiele, Janine Altmüller, Peter Nürnberg, Daniel Swan, Darren Houniet, Aline Büchner, Lisa Weibel, Nicola Wagner, Ramon Grimalt, Anette Bygum, Guy Serre, Ulrike Blume-Peytavi, Eli Sprecher, Susanne Schoch, Vinzenz Oji, Henning Hamm, Paul Farrant, Michel Simon, Regina C. Betz
The American Journal of Human Genetics, December 2016, Elsevier
DOI: 10.1016/j.ajhg.2016.10.004