Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

BACKGROUND: Pediatric disorders include a range of highly genetically heterogeneous conditions amenable to genome-wide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. METHODS: The Deciphering Developmental Disorders (DDD) study recruited &...

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Publicado no:N Engl J Med
Main Authors: Wright, Caroline F., Campbell, Patrick, Eberhardt, Ruth Y., Aitken, Stuart, Perrett, Daniel, Brent, Simon, Danecek, Petr, Gardner, Eugene J., Chundru, V. Kartik, Lindsay, Sarah J., Andrews, Katrina, Hampstead, Juliet, Kaplanis, Joanna, Samocha, Kaitlin E., Middleton, Anna, Foreman, Julia, Hobson, Rachel J., Parker, Michael J., Martin, Hilary C., FitzPatrick, David R., Hurles, Matthew E., Firth, Helen V.
Formato: Artigo
Idioma:Inglês
Publicado em: 2023
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7614484/
https://ncbi.nlm.nih.gov/pubmed/37043637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa2209046.
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