1.       Abdolrahimzadeh B, Piraino DC, Albanese G, Cruciani F, Rahimi S. Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography. Clin Ophthalmol. 2016;10:851-860. doi:10.2147/OPTH.S102830

2.       Adil A, Koritala T, Munakomi S, Singh AK. Neurofibromatosis type 1. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2023.

3.       Armstrong AE, Belzberg AJ, Crawford JR, Hirbe AC, Wang ZJ. Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1–related plexiform neurofibromas. BMC Cancer. 2023;23(1):553. doi:10.1186/s12885-023-10996-y

4.       Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet. 2009;373(9679):1974-1986.

5.       Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9(2):88-100. doi:10.1097/gim.0b013e31803068c7

6.       Campian J, Gutmann DH. CNS tumors in neurofibromatosis. J Clin Oncol. 2017;35(21):2378-2385. doi:10.1200/JCO.2016.71.7199

7.       Cardis MA, Carver DeKlotz CM. Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role. Arch Dis Child. 2017;102(9):858-863. doi:10.1136/archdischild-2016-312001

8.       Conte E, Boccanegra B, Dinoi G, et al. Therapeutic approaches to tuberous sclerosis complex: from available therapies to promising drug targets. Biomolecules. 2024;14(9):1190. doi:10.3390/biom14091190

9.       Curatolo P, Moavero R, Roberto D, Graziola F. Genotype/phenotype correlations in tuberous sclerosis complex. Semin Pediatr Neurol. 2015;22(4):259-273. doi:10.1016/j.spen.2015.10.002

10.   de Vries PJ, Heunis TM, Vanclooster S, et al. International consensus recommendations for the identification and treatment of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND). J Neurodev Disord. 2023;15(1):32. doi:10.1186/s11689-023-09500-1

11.   Evans DG, Salvador H, Chang VY, et al. Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 1. Clin Cancer Res. 2017;23(12):e46-e53.

12.   Feliciano DM. The neurodevelopmental pathogenesis of tuberous sclerosis complex (TSC). Front Neuroanat. 2020;14:39. doi:10.3389/fnana.2020.00039

13.   Franz DN, Capal JK. mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders. Orphanet J Rare Dis. 2017;12(1):51. doi:10.1186/s13023-017-0596-2

14.   Gomes I, Ribeiro JJ, Palavra F. Monitoring and managing patients with tuberous sclerosis complex: current state of knowledge. J Multidiscip Healthc. 2022;15:1469-1480. doi:10.2147/JMDH.S266990

15.   Halliday D, Parry A, Evans DG. Neurofibromatosis type 2 and related disorders. Curr Opin Oncol. 2019;31(6):562-567. doi:10.1097/CCO.0000000000000579

16.   House RRJ, Tovar EA, Redlon LN, et al. NF1 deficiency drives metabolic reprogramming in ER+ breast cancer. Mol Metab. 2024;80:101876. doi:10.1016/j.molmet.2024.101876

17.   Jerow LG, Krueger DA, Gross C, Danzer SC. Somatic mosaicism and interneuron involvement in mTORopathies. Trends Neurosci. 2025;48(5):362-376. doi:10.1016/j.tins.2025.02.009

18.   Karaconji T, Whist E, Jamieson RV, Flaherty MP, Grigg JRB. Neurofibromatosis type 1: review and update on emerging therapies. Asia Pac J Ophthalmol (Phila). 2019;8(1):62-72. doi:10.22608/APO.2018182

19.   Koczkowska M, Chen Y, Callens T, et al. Genotype–phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848. Am J Hum Genet. 2018;102(1):69-87. doi:10.1016/j.ajhg.2017.12.001

20.   Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet. 2011;157(2):83-89. doi:10.1002/ajmg.c.30300

21.   Kresak JL, Walsh M. Neurofibromatosis: a review of NF1, NF2, and schwannomatosis. J Pediatr Genet. 2016;5(2):98-104. doi:10.1055/s-0036-1579766

22.   Landry JP, Schertz KL, Chiang YJ, et al. Comparison of cancer prevalence in patients with neurofibromatosis type 1 at an academic cancer center vs the general population from 1985 to 2020. JAMA Netw Open. 2021;4(3):e210945. doi:10.1001/jamanetworkopen.2021.0945

23.   Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23(8):1506-1513. doi:10.1038/s41436-021-01170-5

24.   MacCollin M, Chiocca EA, Evans DG, et al. Diagnostic criteria for schwannomatosis. Neurology. 2005;64(11):1838-1845.

25.   Ney G, Gross A, Livinski A, Kratz C, Stewart DR. Cancer incidence and surveillance strategies in individuals with RASopathies. Am J Med Genet C Semin Med Genet. 2022;190(4):530-540. doi:10.1002/ajmg.c.32018

26.   Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021;123:50-66. doi:10.1016/j.pediatrneurol.2021.07.011

27.   Nunes BA, Romano AKF, Morgan MAP, et al. A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC). An Bras Dermatol. 2024;99(5):662-669. doi:10.1016/j.abd.2023.11.004

28.   Peron A, Canevini MP, Ghelma F, Di Marco F, Vignoli A. Healthcare transition from childhood to adulthood in tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018;178(3):355-364. doi:10.1002/ajmg.c.31653

29.   Perrino MR, Das A, Scollon SR, et al. Update on pediatric cancer surveillance recommendations for patients with neurofibromatosis type 1, Noonan syndrome, CBL syndrome, Costello syndrome, and related RASopathies. Clin Cancer Res. 2024;30(21):4834-4843.

30.   Piotrowski A, Xie J, Liu YF, et al. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2014;46(2):182-187.

31.   Plotkin SR, Blakeley JO, Evans DG, et al. Update from the 2011 International Neurofibromatosis Conference. Am J Med Genet A. 2012;158A(12):2985-2996.

32.   Plotkin SR, Stemmer-Rachamimov AO, Barker FG, et al. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med. 2009;361:358-367.

33.   Rout P, Thomas A. Tuberous sclerosis. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2025. Updated June 2, 2025.

34.   Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology. 2001;56(11):1433-1443.

35.   Smith MJ, Bowers NL, Bulman M, et al. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1- and SMARCB1-related schwannomatosis. Genet Med. 2017;19(4):508-514.

36.   Smith MJ, Wallace AJ, Bowers NL, et al. Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics. 2012;13(2):141-145.

37.   Tamura R. Current understanding of neurofibromatosis type 1, 2, and schwannomatosis. Int J Mol Sci. 2021;22(11):5850. doi:10.3390/ijms22115850

38.   Teng JMC, Cowen EW, Wataya-Kaneda M, et al. Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements. JAMA Dermatol. 2014;150(10):1095-1101. doi:10.1001/jamadermatol.2014.938

39.   Tinschert S, Naumann I, Stegmann E, et al. Segmental neurofibromatosis: somatic mutation of the NF1 gene is the cause. J Med Genet. 2000;37(8):631-634.

40.   Uysal SP, Şahin M. Tuberous sclerosis: a review of the past, present, and future. Turk J Med Sci. 2020;50(SI-2):1665-1676. doi:10.3906/sag-2002-133

41.   Yu Y, Wei C, Yue M, Zhang C, Wang Y, Wang Z. From benign neurofibromas to malignant peripheral nerve sheath tumors (MPNST): a gaming among multiple factors. Cell Oncol (Dordr). 2025;48(4):841-857. doi:10.1007/s13402-025-01054-9