Titre:
  • Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.
Auteur:Demaret, Tanguy; Wintjens, René; Sana, Gwenaëlle; Docquir, Joachim; Bertin, Frederic; Ide, Christophe; Monestier, Olivier; Karadurmus, Deniz; Benoit, Valérie; Maystadt, Isabelle
Informations sur la publication:Frontiers in endocrinology, 13, page (928284)
Statut de publication:Publié, 2022-09-01
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Albright hereditary osteodystrophy
GNAS
PTH1R
alfacalcidol
epilepsy
iPPSD1
parathyroid hormone
pseudohypoparathyreoidism
MeSH keywords:Humans
Hyperphosphatemia
Hypocalcemia -- complications
Parathyroid Hormone -- metabolism
Parathyroid Hormone-Related Protein
Pseudohypoparathyroidism -- diagnosis -- genetics
Langue:Anglais
Identificateurs:urn:issn:1664-2392
info:doi/10.3389/fendo.2022.928284
info:pmid/35846276
PMC9280615