Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion

Am J Med Genet A. 2023 May;191(5):1476-1478. doi: 10.1002/ajmg.a.63154. Epub 2023 Feb 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromogranins / genetics
  • DNA Methylation
  • GTP-Binding Protein alpha Subunits, Gs / genetics
  • Humans
  • Pseudohypoparathyroidism* / diagnosis
  • Pseudohypoparathyroidism* / genetics
  • Syntaxin 16 / genetics

Substances

  • GTP-Binding Protein alpha Subunits, Gs
  • Chromogranins
  • STX16 protein, human
  • Syntaxin 16