医学
罕见病
疾病
遗传学
计算生物学
病理
生物
作者
Caroline F. Wright,Patrick Campbell,Ruth Y. Eberhardt,Stuart Aitken,Daniel Perrett,Simon Brent,Petr Danecek,Eugene J. Gardner,V. Kartik Chundru,Sarah Lindsay,Katrina Andrews,Juliet E. Hampstead,Joanna Kaplanis,Kaitlin E. Samocha,Anna Middleton,Julia Foreman,Rachel J. Hobson,Michael Parker,Hilary C. Martin,David Fitzpatrick,Matthew E. Hurles,Helen V. Firth
标识
DOI：10.1056/nejmoa2209046
摘要
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.
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