Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
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alsfakia@gmail.com

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Παρασκευή 22 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: reply from authors

Abstract

We thank González-Villanueva et al. for their comments and commend them for their intriguing results. They report on a single patient with clinical and histopathological evidence for Dowling-Degos disease. In addition, the patient developed hidradenitis suppurativa. The patient was found to carry a mutation in POFUT1, a gene previously known to be associated with Dowling-Degos disease.

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