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, and Mallett, Andrew (2018) CFHR5 nephropathy in a Greek-Cypriot Australian family: ancestry-informed precision medicine. Kidney International Reports, 3 (5). pp. 1222-1228.
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Abstract
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.
| Item ID: | 67877 |
|---|---|
| Item Type: | Article (Case Study) |
| ISSN: | 2468-0249 |
| Copyright Information: | © 2018 International Society of Nephrology. Published by Elsevier Inc. This is an open access article under the CC BYNC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| Date Deposited: | 01 Jul 2022 04:20 |
| FoR Codes: | 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 100% |
| SEO Codes: | 20 HEALTH > 2001 Clinical health > 200105 Treatment of human diseases and conditions @ 100% |
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