Contiguous Gene Deletion Involving COL4A1 and COL4A2 in a Patient with Thin Basement Membrane Nephropathy: A Case Report
We propose that haploid expression of COL4A1 in combination with COL4A2 can lead to thin basement membrane nephropathy and CKD.
Authors
- Thomas M. Kitzler (ORCID: https://orcid.org/0009-0006-1537-5237)
- Andrey V. Cybulsky (ORCID: https://orcid.org/0000-0003-4348-2348)
- M. Henein
- Felicia Russo (ORCID: https://orcid.org/0000-0001-6489-5817)
- Chantal Bernard
Institutions
- McGill University Health Centre (CA)
- McGill Genome Centre (CA)
- McGill University (CA)
Publication Details
- Journal
- The Nephron journals/Nephron journals
- Published
- 2025-11-21
- DOI
- https://doi.org/10.1159/000549595
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kidney Foundation of Canada