Monogenic nephrolithiasis-collision of phenotypes, genotypes, and phenocopies

Mallett, Andrew (2021) Monogenic nephrolithiasis-collision of phenotypes, genotypes, and phenocopies. Kidney International Reports, 6 (11). pp. 2737-2739.

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[Extract] Kidney stone disease is not uncommon in the general population and can be underpinned by multiple potential and predisposing underlying biochemical phenomena and phenotypes. The unraveling of these phenotypes and their potential monogenic and polygenic relationships is revealing a much more complex landscape than was previously appreciated. Even for the most significant of major underpinning urinary phenotypes, such as hypercalciuria, this is revealing complexity even though pathways toward precision medicine for affected individuals are being conceptualized.

Item ID: 72088
Item Type: Article (Commentary)
ISSN: 2468-0249
Copyright Information: © 2021 International Society of Nephrology. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license ( by-nc-nd/4.0/).
Date Deposited: 09 Feb 2022 08:04
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 50%
31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 50%
SEO Codes: 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100%
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