Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

<p><strong>Background</strong></p> Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. <p><s...

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Bibliographic Details
Main Authors: Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV
Other Authors: DDD Study
Format: Journal article
Language:English
Published: Massachusetts Medical Society 2023