Two cases of Mazabraud syndrome and identification of a GNAS R201H mutation by next-generation sequencing

Virchows Arch. 2017 May;470(5):589-593. doi: 10.1007/s00428-017-2100-8. Epub 2017 Mar 3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Chromogranins / genetics*
  • DNA Mutational Analysis
  • Female
  • Fibrous Dysplasia of Bone / genetics*
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Liposarcoma, Myxoid / genetics*
  • Male
  • Mutation
  • Nerve Sheath Neoplasms / genetics*
  • Syndrome

Substances

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