2024
DOI: 10.1002/ajmg.a.63607
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Diagnostic findings and yield of investigations for children with developmental regression

Kirsten Furley,
Matthew F. Hunter,
Michael Fahey
et al.

Abstract: Childhood conditions that feature developmental regression are poorly understood. Phenotype–genotype characterization and diagnostic yield data are needed to inform clinical decision‐making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations. A retrospective chart review of children presenting with developmental regression to a tertiary pediatric genetic clinic between 2018 and 2021 was performed. Of 99 children, 30% (n = 30) had… Show more

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