Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com

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! # Ola via Alexandros G.Sfakianakis on Inoreader

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Σάββατο 23 Δεκεμβρίου 2017

Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling Degos Disease firm up a role for Notch signalling in the pathogenesis of this disorder

Abstract

We read with great interest the article by Pavlovsky et al;1 describing PSENEN mutations associated with hidradenitis suppurativa-Dowling Degos Disease (HS-DDD) and suggesting a role for Notch signalling in the pathogenesis of this disorder. The literature also describes mutations in the POFUT1 gene as causative genetic defects in Dowling Degos Disease.2 Decreased Notch activity is associated with mutations in POFUT1.

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