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Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay

Abstract Understanding the genetic basis of developmental delay (DD) and intellectual disability (ID) remains a considerable clinical challenge. This study evaluated the clinical application of trio whole exome sequencing (WES) in children diagnosed with DD/ID. The study comprised 173 children with...

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Principais autores: Chengyan Li, You Wang, Cizheng Zeng, Binglong Huang, Yinhui Chen, Chupeng Xue, Ling Liu, Shiwen Rong, Yongwen Lin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Portfolio 2024-11-01
coleção:Scientific Reports
Assuntos:
Trio-whole exome sequencing
De novo variant
Intellectual disability
Developmental delay
Acesso em linha:https://doi.org/10.1038/s41598-024-79431-x
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