A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series

A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series

Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in COL4A3, COL4A4, and COL4A5 genes. The phenotypes can range from isolated hematuria with a non-progressi...

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Bibliographic Details
Main Authors: Tinatin Tkemaladze, Kakha Bregvadze, Eka Kvaratskhelia, Elene Abzianidze, Tinatin Davitaia
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Medicine
Subjects:
Alport syndrome
thin basement membrane disease
COL4A3
consanguinity
founder effect
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2023.1281049/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2023.1281049/full

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