pseudopseudohypoparathyroidism(English)
- caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several differentially methylated regions. OMIM#612463
- AHO, ACRDYS1, BDE, BDMR, DMR, EST, GNAS, HTNB, MCPP, PHP, PICA, PTH, SMS, STX16, TRPS, TS, TSH
- Congenital disorders, Thyroid and parathyroid, Genetics, Epigenetics
- https://raredis…osteodystrophy/
- https://doi.org…/1750-1172-3-15
- https://doi.org…/clinem/dgab060