Albright hereditary osteodystrophy: report of a particular clinical phenotype caused by a novel GNAS mutation

J Eur Acad Dermatol Venereol. 2010 Aug;24(8):974-5. doi: 10.1111/j.1468-3083.2009.03539.x. Epub 2009 Dec 15.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Chromogranins
  • Female
  • Fibrous Dysplasia, Polyostotic / diagnosis
  • Fibrous Dysplasia, Polyostotic / genetics
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Humans
  • Mutation / genetics*
  • Phenotype*
  • Pseudohypoparathyroidism
  • Radiography
  • Thumb / abnormalities
  • Thumb / diagnostic imaging
  • Toes / abnormalities
  • Toes / diagnostic imaging

Substances

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