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Last Posted: Oct 05, 2023
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Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.
Qing Li et al. JAMA Pediatr 2023 9

From the abstract: " What is the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in cases of short stature? In this study, review of pertinent literature resulted in 10 cohorts comprising 1350 individuals for ES and 14 cohorts including 1070 individuals for CMA in meta-analysis. The diagnostic yield for ES and CMA was determined to be 27.1% and 13.6%, respectively. In this meta-analysis, the findings indicate that ES and CMA may prove useful tools in identifying molecular etiologies underlying short stature in affected individuals."

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