Publications by authors named "Nicolas A D Bergeron"
Article Synopsis
- Alport syndrome is linked to three genes (COL4A3, COL4A4, COL4A5) and is marked by kidney issues like glomerulosclerosis and changes in the glomerular basement membrane.
- A study reported a mother and son with COL4A5-related Alport syndrome, sharing unusual kidney biopsy results and a specific genetic variant (p.Gly1170Ser).
- Findings indicate that changes in collagen expression in Bowman's capsule might be more affected by mutations in COL4A5, suggesting that certain genetic variants can play a significant role in how the disease presents.
