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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

7 Mar 2022

Abstract excerpt

IMPORTANCE: Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require invasive testing and multiple procedures. The wide range of clinical presentations and potential etiologies leaves diagnosis and prognosis uncertain, underscoring the need for rapid elucidation of the underlying genetic cause of disease. OBSERVATIONS: The clinical application of exome...

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PMID: 35254387
DOI: 10.1001/jamaneurol.2022.0067

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