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14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

K Splinter , DR Adams , CA Bacino , HJ Bellen , JA Bernstein , AM Cheatle-Jarvela , CM Eng , C Esteves , WA Gahl , R Hamid , HJ Jacob , B Kikani , DM Koeller , IS Kohane , BH Lee , J Loscalzo , X Luo , AT McCray , TO Metz , JJ Mulvihill , SF Nelson , CGS Palmer , JA, 3rd Phillips , L Pick , JH Postlethwait , C Reuter , V Shashi , DA Sweetser , CJ Tifft , NM Walley , MF Wangler , M Westerfield , MT Wheeler , AL Wise , EA Worthey , S Yamamoto , EA Ashley

To read the full abstract: N Engl J Med 2018;379:21312139.The authors reviewed data on 1519 patients referred to the Undiagnosed Diseases Network (UDN), a US NIH funded network linking seven clinical sites. 53% of patients were female and their symptoms were neurologic (40%), musculoskeletal (10%), immunological (7%), gastrointestinal (7%), or rheumatological (6%). Of the 38...

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ESPE Yearbook of Paediatric Endocrinology

14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

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