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Article

Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort.

Journal of neurology - 1 Apr 2024

Zhu Beiyao, Zheng Tingting, Wang Wei, Gu Yihui, Wei Chengjiang, Li Qingfeng, Wang Zhichao

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 (NF1) is a highly heterogeneous autosomal genetic disorder characterized by a broad spectrum of clinical and molecular manifestations. The correlations between genotype and phenotype in NF1 remain elusive. This study aimed to elucidate genotype-phenotype associations in a large Chinese cohort of NF1 patients. METHODS: We included NF1 patients from our center who underwent...

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Identifiers

PMID: 38095723
DOI: 10.1007/s00415-023-12127-w

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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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