Publication
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
René G. Feichtinger, Bettina E. Mucha, Holger Hengel, Zakaria Orfi, Christine Makowski, Junio Dort, Guy D’Anjou, Thi Tuyet Mai Nguyen, Rebecca Buchert, Hendrik Juenger, Peter Freisinger, Sarah Baumeister, Benedikt Schoser, Uwe Ahting, Reinhard Keimer, Cam-Tu Emilie Nguyen, Paul Fabre, Julie Gauthier, Marguerite Miguet, Fátima Lopes, Afnan AlHakeem, Amal AlHashem, Brahim Tabarki, Krishna Kumar Kandaswamy, Peter Bauer, Peter Steinbacher, Holger Prokisch, Marc Sturm, Tim M. Strom, Benjamin Ellezam, Johannes A. Mayr, Ludger Schöls, Jacques L. Michaud, Philippe M. Campeau, Tobias B. Haack, Nicolas A. Dumont
Genetics in Medicine, May 2019, Springer Science + Business Media
DOI: 10.1038/s41436-019-0532-z