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Polina Kostova
Polina Kostova

Public Documents 1
Netherton Syndrome -- a therapeutic challenge in childhood
Polina Kostova
Guergana Petrova

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

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