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Article

Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.

Journal of human genetics - 1 May 2026

Wang Kaiyu, Jing Miao, Mao Jun, Wang Manli, Lin Yuxiang, Peng Mei, Zheng Fang, Zhang Li, He Quanze

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with broad clinical variability, making diagnosis in pediatric patients particularly challenging due to age-dependent penetrance and variable expressivity. In this study, we analyzed 536 unrelated Chinese children with clinical suspicion of NF1 using optimized whole-exome sequencing (WES) enhanced by targeted probe enrichment and exon-level...

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Identifiers

PMID: 41372492
DOI: 10.1038/s10038-025-01433-y

Genes

NF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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