Article

Rare missense variants in the SH3 domain of <i>PSTPIP1</i> are associated with hidradenitis suppurativa

2022-07-13

Abstract excerpt

Hidradenitis suppurativa (HS) is a chronic, debilitating skin disease estimated to affect ∼1% of the population, for which few treatment options are available. Risk factors associated with HS include smoking, obesity, and some high penetrance genetic variants. Some rare families have autosomal dominant inheritance. Previous studies have shown that rare loss-of-function variants in genes of the gamma-secretase comp...

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Literature Corpus work: 96139a49-1d65-5509-8755-980c952d3290
DOI: 10.1101/2022.07.12.22277558

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