SETBP1 Schinzel-Giedion syndrome

Publications

  • Hoischen A., van Bon B. W. M., Gilissen C., Arts P., van Lier B., Steehouwer M., et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010 April; 42: 483–485.
  • Herenger Y., Stoetzel C., Schaefer E., Scheidecker S., Manière MC., Pelletier V., et al. Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations. Eur J Med Genet. 2015 September; 58(9): 479–487.
  • Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, et al. (2014) De Novo Mutations in Moderate or Severe Intellectual Disability. PLoS Genet; 10(10): e1004772.
  • Carvalho E., Honjo R., Magalhães M., Yamamoto G., Rocha K., Naslavsky M., et al. Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. Am J Med Genet. 2015; Part A: 167A:1039–1046.
  • Acuna-Hidalgo R., Deriziotis P., Steehouwer M., Gilissen C., Graham S. A., Hoover-Fong J., et al. Identical SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PloS Genet; 2017;Mar 27;13(3):e1006683.
  • SETBP1 gene: National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD): The Library; 2016 August 13. Available from: https://ghr.nlm.nih.gov/gene/SETBP1