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Article

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

Scientific reports - 9 Jun 2015

Zhang Jia, Tong Hanxing, Fu Xi'an, Zhang Yong, Liu Jiangbo, Cheng Ruhong, Liang Jianying, Peng Jie, Sun Zhonghui, Liu Hong, Zhang Furen, Lu Weiqi, Li Ming, Yao Zhirong

Abstract excerpt

Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease that is primarily characterized by multiple café au-lait spots (CALs) and skin neurofibromas, which are attributed to defects in the tumor suppressor NF1. Because of the age-dependent presentation of NF1, it is often difficult to make an early clinical diagnosis. Moreover, identifying genetic alterations in NF1 patients represents a...

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PMID: 26056819
DOI: 10.1038/srep11291
PMCID: PMC4460887

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

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