Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

J Med Genet. 2000 Nov;37(11):E35. doi: 10.1136/jmg.37.11.e35.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fibrous Dysplasia, Polyostotic / genetics*
  • Fibrous Dysplasia, Polyostotic / pathology
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Germ-Line Mutation*
  • Haplotypes
  • Humans
  • Infant
  • Male
  • Mosaicism*
  • Mutagenesis, Insertional
  • Pedigree
  • Polymorphism, Single-Stranded Conformational

Substances

  • DNA
  • GTP-Binding Protein alpha Subunits, Gs