Candidate Genetic Modifiers in Alport Syndrome: A Case Series

Candidate Genetic Modifiers in Alport Syndrome: A Case Series

Background: Alport syndrome (AS) is one of the most common monogenic kidney disorders. Recent studies have highlighted the modifier effect of variants involving podocyte and non-collagenous extracellular matrix (ECM) proteins in AS. Methods: We report a case series of eight patients with genetically...

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Bibliographic Details
Main Authors: Ștefan Nicolaie Lujinschi, Bogdan Marian Sorohan, Bogdan Obrișcă, Alexandra Vrabie, Elena Rusu, Diana Zilișteanu, Camelia Achim, Andreea Gabriella Andronesi, Gener Ismail
Format: Article
Language:English
Published: MDPI AG 2025-02-01
Series:Life
Subjects:
type IV collagen
Alport syndrome
COL4-related disorders
gene modifiers
podocytes
extracellular matrix
Online Access:https://www.mdpi.com/2075-1729/15/2/298

Internet

https://www.mdpi.com/2075-1729/15/2/298

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