A founder
Alport syndrome
COL4A3
consanguinity
founder effect
thin basement membrane disease
Journal
Frontiers in medicine
ISSN: 2296-858X
Titre abrégé: Front Med (Lausanne)
Pays: Switzerland
ID NLM: 101648047
Informations de publication
Date de publication:
2023
2023
Historique:
received:
21
08
2023
accepted:
05
12
2023
medline:
8
1
2024
pubmed:
8
1
2024
entrez:
8
1
2024
Statut:
epublish
Résumé
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
Identifiants
pubmed: 38188341
doi: 10.3389/fmed.2023.1281049
pmc: PMC10768050
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1281049Informations de copyright
Copyright © 2023 Tkemaladze, Bregvadze, Kvaratskhelia, Abzianidze and Davitaia.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.