A novel COL4A4 gene variant (c.1856G>A): from a focal segmental glomerulosclerosis case to a family with Alport syndrome
Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. It is caused by mutations in genes encoding several members of type IV colagen proteins primarily found in ba...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Asociación Regional de Diálisis y Trasplantes Renales de Capital Federal y Provincia de Buenos Aires
2019-07-01
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| Series: | Revista de Nefrología, Diálisis y Trasplante |
| Subjects: | |
| Online Access: | https://www.revistarenal.org.ar/index.php/rndt/article/view/436 |