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

Connect to this object online.

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene by Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem

Connect to this object online.

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

Connect to this object online.

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

Connect to this object online.

Congenital Rhabdomyosarcoma: a different clinical presentation in two cases by Ida Russo, Virginia Di Paolo, Carmelo Gurnari, Angela Mastronuzzi, Francesca Del Bufalo, Pier Luigi Di Paolo, Angela Di Giannatale, Renata Boldrini, Giuseppe Maria Milano

Connect to this object online.