Search Results - Daniele Castiglia

A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease by Liliana Guerra, Cristina Pedicelli, Vittoria Proto, Angelo Giuseppe Condorelli, Cinzia Mazzanti, Daniele Castiglia

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Broadening the <i>PHIP</i>-Associated Neurodevelopmental Phenotype by Giulia Pascolini, Giovanni Luca Scaglione, Balasubramanian Chandramouli, Daniele Castiglia, Giovanni Di Zenzo, Biagio Didona

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Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations by Liliana Guerra, Angelo Giuseppe Condorelli, Paola Fortugno, Valentina Calabresi, Cristina Pedicelli, Giovanni Di Zenzo, Daniele Castiglia

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Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin by Claudia Carnevale, Daniele Castiglia, Andrea Diociaiuti, Vittoria Proto, Simona Giancristoforo, Renata Boldrini, Giovanna Zambruno, Maya El Hachem

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Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient by Andrea Diociaiuti, Enrico Rosati, Maria Giovanna Paglietti, Paola Vacca, Renata Boldrini, Elisa Pisaneschi, Daniele Castiglia, Antonio Novelli, Maya El Hachem

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Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy by Liliana Guerra, Monia Magliozzi, Anwar Baban, Corrado Di Mambro, Giovanni Di Zenzo, Antonio Novelli, May El Hachem, Giovanna Zambruno, Daniele Castiglia

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Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases by May El Hachem, Sabina Barresi, Andrea Diociaiuti, Renata Boldrini, Angelo Giuseppe Condorelli, Ettore Capoluongo, Vittoria Proto, Giulietta Scuvera, Cristina Has, Marco Tartaglia, Daniele Castiglia

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Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene by Liliana Guerra, Fabio Bergamo, Maria Rosaria D'Apice, Francesco Angelucci, Stefano di Girolamo, Letizia Camerota, Rosanna Monetta, Giorgio Annessi, Daniele Castiglia, Giuseppe Novelli, Mauro Paradisi, Francesco Brancati

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The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study by Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Angela Filoni, Carmelo Schepis, Maddalena Siragusa, Iria Neri, Annalucia Virdi, Daniele Castiglia, Giovanna Zambruno, Christine Bodemer, May El Hachem

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