Cargando…

Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance

PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with GNAS locus genetic or epigenetic defects. Inactivating PTH/PTHrP signaling disorders (iPPSD) define overlapping phenotypes based on their molecular etio...

Descripción completa

Detalles Bibliográficos
Autores principales: Demaret, Tanguy, Wintjens, René, Sana, Gwenaelle, Docquir, Joachim, Bertin, Frederic, Ide, Christophe, Monestier, Olivier, Karadurmus, Deniz, Benoit, Valerie, Maystadt, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280615/
https://www.ncbi.nlm.nih.gov/pubmed/35846276
http://dx.doi.org/10.3389/fendo.2022.928284