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

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

DOI Full Paper Access

641

Citations

42

References

2012

Year

Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm,

Nature Genetics

Rare DiseasesDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationFshd-permissive D4z4 AlleleMedicineSmchd1 MutationDigenic InheritanceMonogenic Disorders

References

	Year	Citations

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