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Netherton Syndrome (NS) is an uncommon genodermatosis. It is caused by a loss-of-function mutation in serine protease inhibitor of kazal type 5 (SPINK5). The SPINK5 gene encodes lymphoepithelial kazal type related inhibitor type 5 (LEKTI), which is a serine protease inhibitor that is expressed in all stratified epithelia as well as in the thymus .
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