Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

BACKGROUND: Congenital heart defects (CHD) and congenital anomalies of the kidney and urinary tract (CAKUT) account for significant morbidity and mortality in childhood. Dozens of monogenic causes of anomalies in each organ system have been identified. However, even though 30% of CHD patients also h...

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Detalles Bibliográficos
Autores principales: Allred, Erika T., Perens, Elliot A., Coufal, Nicole G., Sanford Kobayashi, Erica, Kingsmore, Stephen F., Dimmock, David P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043482/
https://www.ncbi.nlm.nih.gov/pubmed/36999085
http://dx.doi.org/10.3389/fped.2023.1157630

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043482/
https://www.ncbi.nlm.nih.gov/pubmed/36999085
http://dx.doi.org/10.3389/fped.2023.1157630

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