In familial hidradenitis suppurativa (HS), mutations in the genes encoding three subunits of the gamma secretase complex, presenilin-1 (PSEN1), presenilin enhancer (PSENEN) and nicastrin (NCSTN), have pointed to impaired Notch signalling as a pathogenic disease mechanism.

Novel nicastrin mutation in hidradenitis suppurativa–Dowling–Degos disease clinical phenotype: more than just clinical overlap?

Tricarico P. M.;Peris K.;Crovella S.;Boniotto M.
2020

Abstract

In familial hidradenitis suppurativa (HS), mutations in the genes encoding three subunits of the gamma secretase complex, presenilin-1 (PSEN1), presenilin enhancer (PSENEN) and nicastrin (NCSTN), have pointed to impaired Notch signalling as a pathogenic disease mechanism.
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https://onlinelibrary.wiley.com/doi/10.1111/bjd.19121
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11368/2968054
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