Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome

Abstract Background Alport syndrome (AS) is an inherited nephropathy caused by mutations in the type IV collagen genes. It is clinically characterized by damage to the eyes, ears and kidneys. Diagnosis of AS is hampered by its atypical clinical picture, particularly when the typical features, includ...

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Bibliographic Details

Published in:	BMC Medical Genomics
Main Authors:	Duocai Wang, Meize Pan, Hang Li, Minchun Li, Ping Li, Fu Xiong, Hongbo Xiao
Format:	Article
Language:	English
Published:	BMC 2024-07-01
Subjects:	COL4A3 COL4A4 COL4A5 Alport syndrome
Online Access:	https://doi.org/10.1186/s12920-024-01953-0