Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing

BackgroundGenetic disorders account for a large percentage of admissions and outpatient visits to children's hospitals around the world. Clinical exome sequencing (CES) is a valuable diagnostic tool in the workup of these disorders; however, it is not routinely requested by general pediatricians. Th...

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Autors principals:	Danya Salah Baz, Dareen Baz, Fawzah Alrwuili, Abdullah Aldowaish, Hanan E. Shamseldin, Ayman Elhomoudi, Fowzan S. Alkuraya
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2024-04-01
Col·lecció:	Frontiers in Pediatrics
Matèries:	exome sequencing (ES) General Pediatrics clinical utility autosomal recessive diseases genetic disorders
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fped.2024.1392444/full
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