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Letters |17 July 2018

Whole-Exome Sequencing in Adults With Chronic Kidney Disease

Krzysztof Kiryluk, MD, MS; Emily Groopman, BA; Hila Rasouly, PhD; Christine K. Garcia, MD; Ali G. Gharavi, MD

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We studied patients carefully selected for familial, early-onset, or undiagnosed nephropathy; DiscovEHR assessed a general population recruited from a local health care system. Differences in patient ascertainment and phenotyping may therefore account for the seemingly discrepant findings. Moreover, distinguishing between phenotypic expansion for a known genetic disorder and discovery of a new human disease gene is important in assessing gene–disease associations. Heterozygous mutations in PARN cause dominant telomeropathy (Online Mendelian Inheritance in Man 616371); this phenotype is characterized by multiorgan fibrosis, including that involving the lungs, bone marrow, and liver (1–4). We report TIN as a...
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Kiryluk K, Groopman E, Rasouly H, et al. Whole-Exome Sequencing in Adults With Chronic Kidney Disease. Ann Intern Med. 2018;169:132–133. doi: 10.7326/L18-0207

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Published: Ann Intern Med. 2018;169(2):132-133.

DOI: 10.7326/L18-0207

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2018 American College of Physicians
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704

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