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A novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytoma

  • Seo, Yoorim (Division of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea) ;
  • Jeong, Yeonjeong (Division of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea) ;
  • Kim, Dong Yoon (Division of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea) ;
  • Choi, Kyueun (Division of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea) ;
  • Kim, Eun Sook (Division of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea) ;
  • Moon, Sung Dae (Division of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea) ;
  • Han, Je Ho (Division of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea)
  • Received : 2015.08.01
  • Accepted : 2015.10.07
  • Published : 2018.01.01

Abstract

Keywords

Acknowledgement

Supported by : National Research Foundation of Korea (NRF)

References

  1. Zinnamosca L, Petramala L, Cotesta D, et al. Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects. Arch Dermatol Res 2011;303:317-325. https://doi.org/10.1007/s00403-010-1090-z
  2. National Institutes of Health Consensus Development Conference. Neurofibromatosis. Conference statement. Arch Neurol 1988;45:575-578. https://doi.org/10.1001/archneur.1988.00520290115023
  3. Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Hum Genomics 2012;6:12. https://doi.org/10.1186/1479-7364-6-12
  4. Relles D, Baek J, Witkiewicz A, Yeo CJ. Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases. J Gastrointest Surg 2010;14:1052-1061. https://doi.org/10.1007/s11605-009-1123-0
  5. Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 2010;12:1-11.