Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.

Ricci, Giulia; Mele, Fabiano; Govi, Monica; Ruggiero, Lucia; Sera, Francesco; Vercelli, Liliana; Bettio, Cinzia; Santoro, Lucio; Mongini, Tiziana; Villa, Luisa; +20 more... Moggio, Maurizio; Filosto, Massimiliano; Scarlato, Marina; Previtali, Stefano C; Tripodi, Silvia Maria; Pegoraro, Elena; Telese, Roberta; Di Muzio, Antonio; Rodolico, Carmelo; Bucci, Elisabetta; Antonini, Giovanni; D'Angelo, Maria Grazia; Berardinelli, Angela; Maggi, Lorenzo; Piras, Rachele; Maioli, Maria Antonietta; Siciliano, Gabriele; Tomelleri, Giuliano; Angelini, Corrado; Tupler, Rossella; (2020) Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis. Scientific reports, 10 (1). p. 21648. ISSN 2045-2322 DOI: https://doi.org/10.1038/s41598-020-78578-7

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