Autor: Junlin Pan

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

Nov 7, 2025

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por

Junlin Pan

en Articulos, Case Report, Enfermedades Raras, Frontiers in Genetics

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 w…