Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing

Abstract Introduction Developmental delay (DD) and intellectual disability (ID) are key manifestations of neurodevelopmental disorders (NDDs), characterized by considerable clinical and genetic variability, which complicates genetic diagnosis. Whole exome sequencing (WES) has become an effective met...

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Detalhes bibliográficos

Principais autores:	Jinbo Xu, Wei Su, Yishan Wang, Yuanyuan Luo, Fuling Ye, Yanhong Xu, Lulu Chen, Hong Li
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-11-01
coleção:	BMC Pediatrics
Assuntos:	Whole exome sequencing Developmental delay Intellectual disability Genetic diagnosis Neurodevelopmental disorders
Acesso em linha:	https://doi.org/10.1186/s12887-024-05245-5
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