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Article

Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report.

Medicine - 8 Jul 2022

Dong Meng-Jie, Yang Zhong-Kun, Yang Ji, Guo Rui-Qin, Xiao Yu-Yuan, Liu Hai

Abstract excerpt

RATIONALE: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. NF1 is a multisystemic disease and its pathogenesis involves mutations in the NF1 gene on chromosome 17q11.2 causing RAS overactivation to stimulate abnormal cell proliferation. In this article, a Chinese family with neurofibromatosis type 1 was reported and the relationship between the phenotype and gene mutation was...

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PMID: 35801779
DOI: 10.1097/MD.0000000000029280
PMCID: PMC9259110

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