LAUSR

1 Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nat Rev Dis Primers 2016;2: 16035. 2 Dibble CC, Elis W, Menon S, Qin W, Klekota J, Asara JM, et al. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell 2012;47:535–546. 3 Tian X, Glass JE, Kwiatkowski DJ, Towbin AJ, Li Y, Sund KL, et al. Lymphangioleiomyomatosis association with underlying genotype in patients with tuberous sclerosis complex. Ann Am Thorac Soc 2021; 18:815–819. 4 Muzykewicz DA, Sharma A, Muse V, Numis AL, Rajagopal J, Thiele EA. TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. J Med Genet 2009;46:465– 468. 5 Gupta N, Lee HS, Young LR, Strange C, Moss J, Singer LG, et al.; NIH Rare Lung Disease Consortium. Analysis of the MILES cohort reveals determinants of disease progression and treatment response in lymphangioleiomyomatosis. Eur Respir J 2019;53:1802066. 6 Seibert D, Hong CH, Takeuchi F, Olsen C, Hathaway O, Moss J, et al. Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences. Ann Intern Med 2011;154:806–813, W-294. 7 Treichel AM, Hamieh L, Nathan NR, TyburczyME,Wang JA, Oyerinde O, et al. Phenotypic distinctions between mosaic forms of tuberous sclerosis complex. Genet Med 2019;21:2594–2604. 8 Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, et al. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med 2019; 21:2639–2643. 9 Treichel AM, Kwiatkowski DJ, Moss J, Darling TN. A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults. Br J Dermatol 2020;182:235–237. 10 Boronat S, Shaaya EA, Doherty CM, Caruso P, Thiele EA. Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study. Clin Genet 2014;86: 149–154. 11 Curatolo P, Moavero R, Roberto D, Graziola F. Genotype/phenotype correlations in tuberous sclerosis complex. Semin Pediatr Neurol 2015;22:259–273. 12 Gupta A, de Bruyn G, Tousseyn S, Krishnan B, Lagae L, Agarwal N; TSC Natural History Database Consortium. Epilepsy and neurodevelopmental comorbidities in tuberous sclerosis complex: a natural history study. Pediatr Neurol 2020;106:10–16. 13 Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, et al.; EPISTOP Consortium members. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genet Med 2020;22: 1489–1497. 14 Chu-Shore CJ, Major P, Montenegro M, Thiele E. Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. Neurology 2009;72:1165–1169. 15 Boronat S, Thiele EA, Caruso P. Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study. Dev Med Child Neurol 2017;59: 1071–1076. 16 Boronat S, Barber I, Thiele EA. Sclerotic bone lesions in tuberous sclerosis complex: a genotype-phenotype study. Am J Med Genet A 2017;173:1891–1895.