Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension

Am J Med Genet A. 2018 Nov;176(11):2523-2527. doi: 10.1002/ajmg.a.40349. Epub 2018 Oct 5.
No abstract available

Keywords: diaphragm/diagnostic imaging; genes, Ras; hypertension, renovascular; lipomatosis/genetics; mutation, missense; neurocutaneous syndromes/diagnosis; proto-oncogene; renal-artery obstruction.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Base Sequence
  • Child
  • Child, Preschool
  • Eye Diseases / complications
  • Eye Diseases / diagnostic imaging
  • Eye Diseases / genetics*
  • Humans
  • Hypertension, Renovascular / complications
  • Hypertension, Renovascular / diagnostic imaging
  • Hypertension, Renovascular / genetics*
  • Lipomatosis / complications
  • Lipomatosis / diagnostic imaging
  • Lipomatosis / genetics*
  • Male
  • Mosaicism*
  • Mutation / genetics*
  • Neurocutaneous Syndromes / complications
  • Neurocutaneous Syndromes / diagnostic imaging
  • Neurocutaneous Syndromes / genetics*
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins p21(ras) / genetics*
  • Tomography, X-Ray Computed

Substances

  • KRAS protein, human
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins p21(ras)

Supplementary concepts

  • Encephalocraniocutaneous lipomatosis