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[Clinical characteristics and genetic analysis of 22 Chinese pedigrees affected with Neurofibromatosis type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2026

Hu Bingjie, Ding Xianhong, Lu Yang, Chen Hongliang, Chen Shuaishuai, Xu Mengyi, Fang Yicheng, Shen Bo

Abstract excerpt

OBJECTIVE: To explore the genetic variants and phenotypic characteristics of patients with Neurofibromatosis type I (NF1). METHODS: Twenty two NF1 patients who presented at Enze Medical (Center) Group in Taizhou between 2018 and 2024 were selected as the study subjects. Clinical phenotype and family history were collected for the patients. Whole exome sequencing (WES) was carried out for the 22 probands to screen...

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Identifiers

PMID: 41621841
DOI: 10.3760/cma.j.cn511374-20250825-00511

Genes

NF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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