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Article

Diagnostic yield of genetic testing in 324 infants with hypotonia.

Clinical genetics - 1 Dec 2021

Sharma Sonal, Repnikova Elena, Noel-MacDonnell Janelle R, LePichon Jean-Baptiste

Abstract excerpt

This retrospective cohort study was designed to determine the yield of genetic tests in hypotonic infants and develop a diagnostic algorithm. Out of 496 patients identified by International Classification of Diseases (ICD) 9/10 coding, 324 patients met the inclusion criteria. Diagnostic yields were 32% for karyotype, 19% for microarray, 30% for targeted genetic tests, 38% for gene panels, and 31% for exome...

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Identifiers

PMID: 34480364
DOI: 10.1111/cge.14057
PMCID: PMC9291145

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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