A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma

Pediatr Blood Cancer. 2020 Mar;67(3):e28103. doi: 10.1002/pbc.28103. Epub 2019 Dec 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cerebellar Neoplasms / genetics*
  • Cerebellar Neoplasms / pathology
  • Chromogranins / genetics*
  • Female
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Germ-Line Mutation*
  • Hedgehog Proteins / genetics
  • Hedgehog Proteins / metabolism*
  • Humans
  • Infant
  • Male
  • Medulloblastoma / genetics*
  • Medulloblastoma / pathology
  • Pedigree
  • Prognosis

Substances

  • Chromogranins
  • Hedgehog Proteins
  • SHH protein, human
  • GNAS protein, human
  • GTP-Binding Protein alpha Subunits, Gs