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Rare NF1 Gene Mutation in Chinese Patient with Neurofibromatosis Type 1 and Anaplastic Astrocytoma.

World neurosurgery - 1 Feb 2020

Zhou Shizhen, Zhu Yufang, Xu Jun, Tao Rongjie, Yuan Shuanghu

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 (NF1), a dysregulated neurocutaneous disorder, is an autosomal dominant genetic disease caused by mutations in the NF1 gene. Anaplastic astrocytoma is rare in NF1 patients, and research has proposed that high-grade astrocytomas could be due to larger germ-line mutations in NF1.We present a clinical and molecular study of a Chinese family with NF1. CASE DESCRIPTION: A...

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PMID: 31678437
DOI: 10.1016/j.wneu.2019.10.126

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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