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.1Mutations in this gene drastically reduce (<10%) inositol polyphosphate 5-phosphatase (OCRL1) activity.1This article is protected by copyright. All rights reserved.
Patients affected by Dent disease 2 could be predisposed to hidradenitis suppurativa
Marzuillo, Pierluigi;Argenziano, Giuseppe;Miraglia Del Giudice, Emanuele;La Manna, Angela
2018
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.1Mutations in this gene drastically reduce (<10%) inositol polyphosphate 5-phosphatase (OCRL1) activity.1This article is protected by copyright. All rights reserved.File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
