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Article

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.

Genes - 26 Oct 2019

Yao Ruen, Yu Tingting, Xu Yufei, Yu Li, Wang Jiwen, Wang Xiumin, Wang Jian, Shen Yiping

Abstract excerpt

BACKGROUND: Neurofibromatosis 1 (NF1) is one of the most common dominantly inherited genetic disorders worldwide, with an age-dependent phenotypic expression. Exploring the mutational spectrum and clinical presentation of NF1 patients at different ages from a diverse population will aid the understanding of genotype-phenotype correlations. METHODS: In this study, 95 Chinese children with clinical suspicion of NF1...

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PMID: 31717729
DOI: 10.3390/genes10110847
PMCID: PMC6896037

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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