A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality
Author:
Publisher
Genetics and Molecular Research
Subject
Genetics,Molecular Biology,General Medicine
Link
http://www.funpecrp.com.br/gmr/year2012/vol11-3/pdf/gmr1735.pdf
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene;Human Genomics;2023-02-20
2. Neurofibromatosis type 1: New developments in genetics and treatment;Journal of the American Academy of Dermatology;2021-06
3. Longitudinal phenotype development in a minipig model of neurofibromatosis type 1;Scientific Reports;2020-03-19
4. Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1;Italian Journal of Pediatrics;2018-04-04
5. Novel in-frame deletion mutation c.177_179delTAC of neurofibromatosis type 1 in a Chinese 4-year-old boy with binocular blindness;INT J OPHTHALMOL-CHI;2015
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