Clinical Masks of Neurofibromatosis Type 1
Author:
Affiliation:
1. Bashkir State Medical University
Publisher
Synapse, LLC
Subject
General Medicine
Reference72 articles.
1. Koczkowska M., Callens T., Gomes A. et al. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): and update of genotype-phenotype correlation. Genet Med. 2019; 21(4): 867-876. doi: 10.1038/s41436-018-0326-8.
2. Barrea C., Vaessen S., Bulk S. et al. Phenotype-Genotype Correlation in Children with Neurofibromatosis Type 1. Neuropediatrics. 2018; 49(3): 180-184. doi: 10.1055/s-0037-1620239.
3. Rojnueangnit K., Xie J., Gomes A. et al. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Hum Mutat. 2015; 36(11): 105263. doi: 10.1002/humu.22832.
4. Ratner N., Miller S.J. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer. 2015; 15(5): 290-301. doi: 10.1038/nrc3911.
5. Upadhyaya M., Huson S.M., Davies M. et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. The American Journal of Human Genetics. 2007; 80: 140–151. doi: 10.1086/510781.
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