Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review by Giovanni Vitale, Marco Sciveres, Claudia Mandato, Adamo Pio d’Adamo, Angelo Di Giorgio

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Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity by Andrea Balduit, Anna Monica Bianco, Alessandro Mangogna, Anna Maria Zicari, Lucia Leonardi, Bianca Laura Cinicola, Bianca Laura Cinicola, Martina Capponi, Alberto Tommasini, Alberto Tommasini, Chiara Agostinis, Adamo Pio d’Adamo, Adamo Pio d’Adamo, Roberta Bulla

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A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis by Paola Maura Tricarico, Rossella Gratton, Carlos André dos Santos-Silva, Ronald Rodrigues de Moura, Blendi Ura, Eduardo Sommella, Pietro Campiglia, Cecilia Del Vecchio, Chiara Moltrasio, Chiara Moltrasio, Irene Berti, Adamo Pio D’Adamo, Adamo Pio D’Adamo, Ahmed M. A. Elsherbini, Lena Staudenmaier, Karin Chersi, Michele Boniotto, Bernhard Krismer, Birgit Schittek, Sergio Crovella

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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme by Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B. Burlina, Adamo Pio d'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, Anna Savoia

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