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Article

A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Sept 2016

Banerjee Santasree, Dai Yi, Liang Shengran, Chen Huishuang, Wang Yanyan, Tang Lihui, Wu Jing, Huang Hui

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a dysregulated neurocutaneous disorder, characterized by neurofibromas and café-au-lait spots. NF1 is caused by mutations in the NF1 gene, encoding neurofibromin. Here, we present a clinical molecular study of a three-generation Chinese family with NF1. The proband was a male patient who showed café-au-lait spots and multiple subcutaneous neurofibromas over the whole body, but...

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PMID: 27234610
DOI: 10.1016/j.jocn.2015.12.034

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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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