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Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.

BMC genomics - 22 Apr 2024

Ma Heqian, Zhu Lina, Yang Xiao, Ao Meng, Zhang Shunxiang, Guo Meizhen, Dai Xuelin, Ma Xiuwei, Zhang Xiaoying

Abstract excerpt

Developmental delay (DD), or intellectual disability (ID) is a very large group of early onset disorders that affects 1-2% of children worldwide, which have diverse genetic causes that should be identified. Genetic studies can elucidate the pathogenesis underlying DD/ID. In this study, whole-exome sequencing (WES) was performed on 225 Chinese DD/ID children (208 cases were sequenced as proband-parent trio) who...

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Identifiers

PMID: 38649797
DOI: 10.1186/s12864-024-10279-1
PMCID: PMC11034079

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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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