Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric subspecialties, it is not yet routinely used by gene...

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Detalles Bibliográficos
Autores principales: Kagan, Maayan, Semo-Oz, Rotem, Ben Moshe, Yishay, Atias-Varon, Danit, Tirosh, Irit, Stern-Zimmer, Michal, Eliyahu, Aviva, Raas-Rothschild, Annick, Bivas, Maayan, Shlomovitz, Omer, Chorin, Odelia, Rock, Rachel, Tzadok, Michal, Ben-Zeev, Bruria, Heimer, Gali, Bolkier, Yoav, Gruber, Noah, Dagan, Adi, Bar Aluma, Bat El, Pessach, Itai M., Rechavi, Gideon, Barel, Ortal, Pode-Shakked, Ben, Anikster, Yair, Vivante, Asaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9868164/
https://www.ncbi.nlm.nih.gov/pubmed/36699461
http://dx.doi.org/10.3389/fgene.2022.1018062

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