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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… Click to show full 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 This article is protected by copyright. All rights reserved.
Keywords:
affected dent;
disease could;
dent disease;
disease;
could predisposed;
patients affected
Journal Title: Journal of the European Academy of Dermatology and Venereology
Year Published: 2018
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Journal Title: Journal of the European Academy of Dermatology and Venereology
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!