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.
2020-01-01
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.File in questo prodotto:
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