Multilineage ACTB mutation in a patient with fibro-osseous maxillary lesion and pilocytic astrocytoma

Am J Med Genet A. 2018 Sep;176(9):2037-2040. doi: 10.1002/ajmg.a.40475. Epub 2018 Aug 27.
No abstract available

Keywords: actin; astrocytoma; exome sequencing; human genetics; mosaicism.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Actins / genetics*
  • Astrocytoma / diagnosis*
  • Astrocytoma / genetics*
  • Cementoma / diagnosis*
  • Cementoma / genetics*
  • Child, Preschool
  • Exome Sequencing
  • Genetic Association Studies
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Phenotype
  • Tomography, X-Ray Computed

Substances

  • Actins