Exome sequencing in 90 children with developmental delay: a single-center experience

Exome sequencing in 90 children with developmental delay: a single-center experience

IntroductionDevelopmental delay (DD) in children is often caused by genetic abnormalities, which are challenging to diagnose due to the vast genetic variability.MethodsThis study presents a detailed analysis of whole-exome sequencing (WES) on 90 children with DD at a single clinical center.ResultsWe...

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Bibliographic Details
Main Authors: Oksana Boyarchuk, Liubov Volianska, Olena Smashna, Halyna Makukh
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Genetics
Subjects:
developmental delay
whole exome sequencing
WES
autism spectrum disorders
epilepsy
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1505254/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1505254/full

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