DOI: 10.1055/s-00029030

Journal of Pediatric Neurology

References

Lemmers RJ, Tawil R, Petek LM. , et al.
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Nat Genet 2012;
44 (12) 1370-1374

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