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Phenotypic Spectrum of <i>NFIA</i> Haploinsufficiency: Two Additional Cases and Review of the Literature by Veronica Bertini, Francesca Cambi, Alessandro Orsini, Alice Bonuccelli, Aureliano Fiorini, Andrea Santangelo, Massimo Scacciati, Maurizio Elia, Ornella Galesi, Diego Peroni, Angelo Valetto
Published 2022-11-01
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Congenital Myopathy as a Phenotypic Expression of <i>CACNA1S</i> Gene Mutation: Case Report and Systematic Review of the Literature by Gemma Marinella, Alessandro Orsini, Massimo Scacciati, Elisa Costa, Andrea Santangelo, Guja Astrea, Silvia Frosini, Rosa Pasquariello, Anna Rubegni, Giada Sgherri, Martina Corsi, Alice Bonuccelli, Roberta Battini
Published 2023-06-01
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