Αρχειοθήκη ιστολογίου

Κυριακή 11 Φεβρουαρίου 2018

Patients affected by Dent disease 2 could be predisposed to hidradenitis suppurativa

Abstract

Dent disease 2 (DD2) is a rare X-Linked disorder characterized by proximal tubule dysfunction. It is considered as mild variant of Lowe Syndrome (LS) and both conditions are secondary to OCRL1 gene mutations.1 Mutations in this gene drastically reduce (<10%) inositol polyphosphate 5-phosphatase (OCRL1) activity.1

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