Paediatric genomic testing: Navigating genomic reports for the general paediatrician

Monogenic rare disorders contribute significantly to paediatric morbidity and mortality, and elucidation of the underlying genetic cause may have benefits for patients, families and clinicians. Advances in genomic technology have enabled diagnostic yields of up to 50% in some paediatric cohorts. Thi...

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Detalles Bibliográficos
Autores principales: Shah, Margit, Selvanathan, Arthavan, Baynam, Gareth, Berman, Yemima, Boughtwood, Tiffany, Freckmann, Mary‐Louise, Parasivam, Gayathri, White, Susan M, Grainger, Natalie, Kirk, Edwin P, Ma, Alan SL, Sachdev, Rani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd. 2021
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292248/
https://www.ncbi.nlm.nih.gov/pubmed/34427008
http://dx.doi.org/10.1111/jpc.15703

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292248/
https://www.ncbi.nlm.nih.gov/pubmed/34427008
http://dx.doi.org/10.1111/jpc.15703

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