Pseudohypoparathyroidism type 1a caused by a GNAS gene mutation: over 40 years without a proper diagnosis

Pol Arch Intern Med. 2022 Feb 28;132(2):16153. doi: 10.20452/pamw.16153. Epub 2021 Dec 1.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromogranins* / genetics
  • GTP-Binding Protein alpha Subunits, Gs* / genetics
  • Humans
  • Mutation
  • Pseudohypoparathyroidism* / diagnosis
  • Pseudohypoparathyroidism* / genetics

Substances

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