Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing

Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing

Background: Whole-exome sequencing (WES) has been recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (NDDs). We aimed to identify the genetic causes of 17 children with developmental delay (DD) and/or intellectual disability (ID).Methods: WES and e...

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Autores principales: Jingjing Xiang, Yang Ding, Fei Yang, Ang Gao, Wei Zhang, Hui Tang, Jun Mao, Quanze He, Qin Zhang, Ting Wang
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
whole-exome sequencing
developmental delay
intellectual disability
exome-based CNV analysis
variants
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/17e229f435934f64ad7f4b78e7b00f10
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