Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

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@inproceedings{Lemmers2012DigenicIO, title={Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2}, author={Richard J. L. F. Lemmers and Rabi N Tawil and Lisa M. Petek and Judit Balog and Gregory J. Block and Gijs W.E. Santen and Amanda M. Amell and Patrick J. van der Vliet and Rowida Almomani and Kirsten R. Straasheijm and Yvonne D. Krom and Rinse Klooster and Yu Sun and Johan T den Dunnen and Quinta Helmer and Colleen M. Donlin-Smith and George W. Padberg and Baziel G.M. van Engelen and Jessica C. de Greef and Annemieke M. Aartsma-Rus and Rune R. Frants and Marianne de Visser and Claude Desnuelle and Sabrina Sacconi and Galina N. Filippova and Bert N. Bakker and Michael Bamshad and Stephen J. Tapscott and Daniel G. Miller and Silv{\`e}re M van der Maarel}, booktitle={Nature genetics}, year={2012} }