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
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Frontiers Media S.A. 2025-11-01
סדרה:	Frontiers in Genetics
נושאים:	whole-exome sequencing SETBP1 developmental delay pathogenic case report
גישה מקוונת:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1637931/full
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