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Dermatologic Therapy|August 8, 2020
Initial validation of the epidermolysis bullosa-specific module of the Infants and Toddlers Dermatology Quality of Life questionnairePavel V Chernyshov, Servando E Marron, Lucia Tomas-Aragones, et al.The Journal of Investigative Dermatology|November 18, 2011
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutationsMatthieu Lacroix, Laetitia Lacaze-Buzy, Laetitia Furio, et al.International Journal of Molecular Sciences|December 11, 2025
A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and FunctionAnna Giulia Ruggieri, Nikolaos M Marinakis, Laura Amodei, et al.Pageof 2