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Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay

BackgroundThis study aims to characterize the potential genetic etiologies in children with developmental delay through whole-exome sequencing (WES) providing assistance for clinical diagnosis, genetic counseling, and reproductive guidance.MethodsWES was performed on the proband, followed by Sanger...

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Principais autores: Junlin Pan, Yan Zhang, Jinwei Hou, Na Shi, Huiling Qu, Longhuan Jiang, Haiping Liu
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2025-11-01
Serier:Frontiers in Genetics
Fag:
whole-exome sequencing
SETBP1
developmental delay
pathogenic
case report
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2025.1637931/full
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