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? / Garcovich, S.; Tricarico, P. M.; Nait-Meddour, C.; Giovanardi, G.; Peris, K.; Crovella, S.; Boniotto, M.. - In: BRITISH JOURNAL OF DERMATOLOGY. - ISSN 0007-0963. - 183:4(2020), pp. 758-759. [10.1111/bjd.19121]
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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