CFHR5 nephropathy in a Greek-Cypriot Australian family: ancestry-informed precision medicine

Journal Contribution ResearchOnline@JCU
Ng, Monica S.Y.;McClymont, Kelly;McCallum, Naomi;Dua, Rahul;Holman, Katherine;Bennetts, Bruce;Ho, Gladys;Patel, Chirag;Mallett, Andrew
Andrew Mallett
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.

Journal

Kidney International Reports

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Volume

3

ISBN/ISSN

2468-0249

Edition

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Issue

5

Pages Count

7

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Publisher

Elsevier

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Publisher Location

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Publish Date

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Url

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Date

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EISSN

N/A

DOI

10.1016/j.ekir.2018.04.007