Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases

• May El Hachem,
• Sabina Barresi,
• Andrea Diociaiuti,
• Renata Boldrini,
• Angelo Giuseppe Condorelli,
• Ettore Capoluongo,
• Vittoria Proto,
• Giulietta Scuvera,
• Cristina Has,
• Marco Tartaglia,
• Daniele Castiglia

Affiliations

May El Hachem

Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital-IRCCS, Piazza S. Onofrio 4, IT-00165 Rome, Italy

Sabina Barresi

Andrea Diociaiuti

Renata Boldrini

Angelo Giuseppe Condorelli

Ettore Capoluongo

Vittoria Proto

Giulietta Scuvera

Cristina Has

Marco Tartaglia

Daniele Castiglia