A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.
Takuya TakeichiT MatsumotoT NomuraM TakedaH NiwaMichihiro KonoH ShimizuT OgiM AkiyamaPublished in: The British journal of dermatology (2019)