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The challenges and surprises of a definitive molecular genetic diagnosis

Lookup NU author(s): Professor John SayerORCiD, Dr Roslyn Simms


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Making precise molecular genetic diagnoses in inherited kidney diseases is important. Gee et al. describe families with end-stage renal disease secondary to a presumed diagnosis of a nephronophthisis-related ciliopathy (NPHP-RC), in whom a combination of approaches allowed genetic diagnoses to be made. New genetic approaches to the diagnosis of childhood renal failure are becoming mainstream and will hopefully improve patient management, avoid clinical misdiagnoses, reduce the need for invasive investigations, and allow screening of at-risk relatives.

Publication metadata

Author(s): Sayer JA, Simms RJ

Publication type: Editorial

Publication status: Published

Journal: Kidney International

Year: 2014

Volume: 85

Issue: 4

Pages: 748-749

Print publication date: 01/04/2014

ISSN (print): 0085-2538

ISSN (electronic): 1523-1755

Publisher: Nature Publishing Group


DOI: 10.1038/ki.2013.432