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Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients by Tiziana Fioretti, Luigi Auricchio, Angelo Piccirillo, Giuseppina Vitiello, Adelaide Ambrosio, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito
Published 2020-11-01
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De Novo Large Deletions in the <i>PHEX</i> Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab by Carmine Pecoraro, Tiziana Fioretti, Assunta Perruno, Antonella Klain, Daniela Cioffi, Adelaide Ambrosio, Diego Passaro, Luigi Annicchiarico Petruzzelli, Carmela Di Domenico, Domenico de Girolamo, Sabrina Vallone, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito
Published 2023-07-01
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