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Article

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.

Journal of molecular neuroscience : MN - 1 Aug 2018

Xiao Heng, Yuan Lamei, Xu Hongbo, Yang Zhijian, Huang Feizhou, Song Zhi, Yang Yan, Zeng Cheng, Deng Hao

Abstract excerpt

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder primarily characterized by multiple café-au-lait macules, peripheral neurofibromas, skinfold freckling, and Lisch nodules. The causative genetic factor is the neurofibromin 1 gene (NF1), which encodes a Ras GTPase-activating protein called neurofibromin. NF1 variants may lead to loss of neurofibromin function and activation of downstream cell...

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PMID: 30046999
DOI: 10.1007/s12031-018-1128-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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