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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2021-07-01
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| Series: | Advances in Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/almed-2021-0058 |