Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD
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E. Ricci | L. Politano | E. Giardina | R. Petillo | G. Deidda | M. Scutifero | L. Colantoni | C. Strafella | Valerio Caputo | R. Cascella | S. Zampatti | Rosaria Maria Galota | Gianluca Marella | M. Arcangeli | Valeria Errichiello