The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report
BackgroundAlport syndrome is an inherited glomerular disease that leads to progressive kidney failure, hearing loss, and eye problems. Diagnosis mostly relies on tests of tissue pathology and genetic analysis. This study aims to clarify the role of the COL4A4 c.817-1G > A mutation in Alport s...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1533638/full |
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