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David Barit on Muck Rack

David Barit

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Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses

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By Mary Huang, Timothy Pianta, KHALID MAHMOOD, Deb Colville, Heather Mack, Judy Savige, David Barit
| Nature Verified
Abstract Genetic disease is often unrecognised. This study examined how often renal clinic patients, with a non-genetic diagnosis and without a family history of genetic disease recorded at the last three visits, had an underlying genetic form of kidney disease or diabetes. Sixty-four consecutive unrelated patients from a general nephrology clinic (44 male, 20 female) with a median age of 66 years (range 26 – 87) underwent chart review and Whole Exome Sequencing (WES).
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