Large-scale study finds genetic causes for 41% of rare pediatric diseases
18 Apr, 2023 | 13:25h | UTCGenomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland – New England Journal of Medicine (free for a limited period)
News Release: 5,500 people diagnosed with rare genetic diseases in major research study – University of Exeter
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The DDD study recruited more than 13,500 families with probands with severe, probably monogenic disorders in the United Kingdom and Ireland and obtained a genetic diagnosis in approximately 41% of probands. https://t.co/W3pfg5HPEZ pic.twitter.com/eGb2yNsGBf
— NEJM (@NEJM) April 12, 2023