Genetic Disorders and Mortality in Infancy and Early Childhood: Delayed Diagnoses and Missed Opportunities

PURPOSE: Infants admitted to a level IV neonatal intensive care unit (NICU) who do not survive early childhood represent a population likely enriched for rare genetic disease; we therefore characterized their genetic diagnostic evaluation. METHODS: This is a retrospective analysis of infants admitte...

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Detalles Bibliográficos
Autores principales: Wojcik, Monica H., Schwartz, Talia S., Yamin, Inbar, Edward, Heather L., Genetti, Casie A., Towne, Meghan C., Agrawal, Pankaj B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185816/
https://www.ncbi.nlm.nih.gov/pubmed/29790870
http://dx.doi.org/10.1038/gim.2018.17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185816/
https://www.ncbi.nlm.nih.gov/pubmed/29790870
http://dx.doi.org/10.1038/gim.2018.17

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