A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease

Patients with Alport syndrome develop progressive kidney function deterioration, sensorineural hearing loss, and ocular abnormalities. This condition is caused by mutations in COL4A5 (X-linked inheritance), COL4A3 and COL4A4 (autosomal dominant or recessive inheritance), and encoding type IV collage...

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Bibliographic Details
Main Authors: Sienes Bailo Paula, Bancalero Flores José Luis, Lahoz Alonso Raquel, Santamaría González María, Gutiérrez Dalmau Alex, Álvarez de Andrés Sara, Izquierdo Álvarez Silvia
Format: Article
Language:English
Published: De Gruyter 2021-07-01
Series:Advances in Laboratory Medicine
Subjects:
alport syndrome
col4a3
familial glomerular hematuria
Online Access:https://doi.org/10.1515/almed-2021-0058

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