Andreas R. Janecke, Xiaoqin Liu, Rüdiger Adam, Sumanth Punuru, Arne Viestenz, Valeria Strauß, Martin Laass, Elizabeth Sanchez, Roberto Adachi, Martha P. Schatz, Ujwala S. Saboo, Naveen Mittal, Klaus Rohrschneider, Johanna Escher, Anuradha Ganesh, Sana Al Zuhaibi, Fathiya Al Murshedi, Badr AlSaleem, Majid Alfadhel, Siham Al Sinani, Fowzan S. Alkuraya, Lukas A. Huber, Thomas Müller, Ruth Heidelberger, Roger Janz
Hum Genet. 2021; 140(8): 1143–1156. Published online 2021 May 11. doi: 10.1007/s00439-021-02284-1