REFERENCES
  1. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics. 2009; 123: 124-33.
  2. Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A.2010; 152A: 327-32.
  3. Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, 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: 69-87.
  4. Batalla A, Iglesias-Puzas A, Freire-Bruno J, Herrero-Hermida J, Flórez A. Genotype-phenotype correlation in type 1 neurofibromatosis: pMet992del mutation and milder disease. Pediatr Dermatol. 2018; 35: e268-71.
  5. Van Minkelen R, Van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, et al. A clinical and genetic overview of 18 years neuro-fibromatosis type 1 molecular diagnostics in the Netherlands. Clin Genet. 2014; 85: 318-27.
  6. Kehrer-Sawatzki H, Mautner VF, Cooper DN. Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet.2017; 136: 349-76.
  7. Barrea C, Vaessen S, Bulk S, Harvengt J, Misson JP. Phenotype-genotype correlation in children with neurofibromatosis type 1.Neuropediatrics. 2018; 49: 180-4.
  8. Mao B, Chen S, Chen X, Yu X, Zhai X, Yang T, et al. Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1. BMC Med Genet. 2018; 19: 101.
  9. Pasmant E, Vidaud M, Vidaud D, Wolkenstein P. Neurofibromatosis type 1: from genotype to phenotype. J Med Genet. 2012; 49: 483-9.