Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene

Clin Endocrinol (Oxf). 2016 Mar;84(3):463-5. doi: 10.1111/cen.12953. Epub 2015 Oct 26.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Child
  • Chromogranins / genetics*
  • DNA Mutational Analysis
  • Family Health
  • Female
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Pseudohypoparathyroidism / genetics*
  • Pseudohypoparathyroidism / pathology

Substances

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

Associated data

  • GENBANK/NM_000516.4