REFERENCES
1. Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N. The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 1992;8:415-28.
2. Malhotra R, Ratner N. Localization of neurofibromin to keratinocytes and melanocytes in developing rat and human skin. J Invest Dermatol 1994;102:812-8.
3. Martin GA, Viskoohil D, Bollag G, et al. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 1990;63:843-9.
4. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988;45:575-8.
5. Nix JS, Blakeley J, Rodriguez FJ. An update on the central nervous system manifestations of neurofibromatosis type 1. Acta Neuropathol 2020;139:625-41.
6. Pecoraro A, Arehart E, Gallentine W, et al. Epilepsy in neurofibromatosis type 1. Epilepsy Behav 2017;73:137-41.
7. 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): an update of genotype-phenotype correlation. Genet Med 2019;21:867-76.
8. Quintáns B, Pardo J, Campos B, et al. Neurofibromatosis without neurofibromas: confirmation of a genotype-phenotype correlation and implications for genetic testing. Case Rep Neurol 2011;3:86-90.
9. Upadhyaya M, Huson SM, 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. Am J Hum Genet 2007;80:140-51.
10. 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;36:1052-63.
11. Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson DA. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1. Am J Med Genet A 2010;152A:1973-8.
12. Hsieh HY, Fung HC, Wang CJ, Chin SC, Wu T. Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects. Seizure 2011;20:606-11.
13. Kuroda N, Fujimoto A, Okanishi T, Sato K, Nishimura M, Enoki H. Epilepsy surgery for a patient with neurofibromatosis type 1 concomitant with moyamoya syndrome. J Clin Neurosci 2019;61:307-10.
14. Griffiths PD, Blaser S, Mukonoweshuro W, Armstrong D, Milo-Mason G, Cheung S. Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential? Pediatrics 1999;104:e49.
15. Griffith JL, Morris SM, Mahdi J, Goyal MS, Hershey T, Gutmann DH. Increased prevalence of brain tumors classified as T2 hyperintensities in neurofibromatosis 1. Neurol Clin Pract 2018;8:283-91.
16. Billiet T, Mädler B, D'Arco F, et al. Characterizing the microstructural basis of “unidentified bright objects" in neurofibromatosis type 1: A combined in vivo multicomponent T2 relaxation and multi-shell diffusion MRI analysis. Neuroimage Clin 2014;4:649-58.
