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Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia

19 Dec 2024

Abstract excerpt

BACKGROUND AND OBJECTIVES: Hypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia. We aimed to assess the diagnostic yield and overall impact of exome and genome sequencing (ES and GS). METHODS: Consecutive infants with hypotonia were identified from research and...

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PMID: 39700446
DOI: 10.1212/wnl.0000000000210106

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