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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Pubblicato in:N Engl J Med
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2023
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Article
Accesso online: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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