A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D by Viola Alesi, Francesca Sessini, Silvia Genovese, Giusy Calvieri, Ester Sallicandro, Laura Ciocca, Maura Mingoia, Antonio Novelli, Paolo Moi

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Neurological and Neuroimaging Features of <i>CYB5R3</i>-Related Recessive Hereditary Methemoglobinemia Type II by Francesco Nicita, Letizia Sabatini, Viola Alesi, Giulia Lucignani, Ester Sallicandro, Antonella Sferra, Enrico Bertini, Ginevra Zanni, Giuseppe Palumbo

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A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review by Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia, Tommaso Aversa

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Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri–Weill Dyschondrosteosis by Laura Lucchetti, Paolo Prontera, Amedea Mencarelli, Amedea Mencarelli, Ester Sallicandro, Annalisa Mencarelli, Marta Cofini, Alberto Leonardi, Gabriela Stangoni, Laura Penta, Susanna Esposito

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Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review by Chiara Minotti, Chiara Minotti, Ludovico Graziani, Ludovico Graziani, Ester Sallicandro, Maria Cristina Digilio, Roberto Falasca, Viola Alesi, Giuseppe Novelli, Giuseppe Novelli, Maria Lisa Dentici, Sara Loddo, Antonio Novelli

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