Uncovering genetic contributors to developmental delay and intellectual disability: a focus on CNVs in pediatric patients

Uncovering genetic contributors to developmental delay and intellectual disability: a focus on CNVs in pediatric patients

BackgroundDevelopmental delay (DD) and intellectual disability (ID) are prevalent in children and often have genetic causes, particularly copy number variations (CNVs). Chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) are key diagnostic tools for identifying genetic contributio...

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Bibliographic Details
Main Authors: Yilun Tao, Hongzhi Guo, Dong Han, Miao Yang, Ting Lun, Lihong Wang, Wenxia Song, Haiwei Wang, Xiaoze Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Genetics
Subjects:
copy number variations
SNP array
WES
developmental delay
intellectual disability
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1539902/full
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