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Dimitrinka Miteva
Public Documents
1
Netherton Syndrome -- a therapeutic challenge in childhood
Polina Kostova
and 10 more
March 16, 2024
Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It is caused by loss-of-function mutations in the SPINK5 gene, which encode a key kallikrein protease inhibitor. There are two subtypes of the syndrome that differ in clinical presentation and immune