CFHR5 nephropathy in a Greek-Cypriot Australian family: ancestry-informed precision medicine
- Ng, Monica S.Y.
- McClymont, Kelly
- McCallum, Naomi
- Dua, Rahul
- Holman, Katherine
- Bennetts, Bruce
- Ho, Gladys
- Patel, Chirag
- Mallett, Andrew
DOIAbstract
This case presents the first reported Australian family with genetically confirmed CFHR5 nephropathy and discusses the importance of making such a diagnosis, the challenges in its confirmation, and the implications for affected and at-risk family members
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