Causative mutations and putatively pathogenic variants identified in this study.
Eisenberger Tobias,Neuhaus Christine,O. Khan Arif,Decker Christian,N. Preising Markus,Friedburg Christoph,Bieg Anika,Gliem Martin,Charbel Issa Peter,G. Holz Frank, M. Baig Shahid,Hellenbroich Yorck, Galvez Alberto, Platzer Konrad,Wollnik Bernd,Laddach Nadja, Reza Ghaffari Saeed, Rafati Maryam, Botzenhart Elke,Tinschert Sigrid, Börger Doris, Bohring Axel,Schreml Julia, Körtge-Jung Stefani,Schell-Apacik Chayim, Bakur Khadijah, Y. Al-Aama Jumana,Neuhann Teresa,Herkenrath Peter,Nürnberg Gudrun,Nürnberg Peter, S. Davis John,Gal Andreas,Bergmann Carsten,Lorenz Birgit, J. Bolz Hanno PLOS ONE（2013）
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