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A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report


Address correspondence to Maria G. Alpigiani, M.D., Institute “Giannina Gaslini” IRCCS, Largo Gerolamo Gaslini 5, 16147 Genova, Italy, or e-mail:


Abstract:  We report on a case of Netherton syndrome showing a new SPINK5 mutation (c.957_960dupTGGT duplication in exon 11), associated with partial defect of biotinidase.