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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...
Autores principales: | Demaret, Tanguy, Wintjens, René, Sana, Gwenaelle, Docquir, Joachim, Bertin, Frederic, Ide, Christophe, Monestier, Olivier, Karadurmus, Deniz, Benoit, Valerie, Maystadt, Isabelle |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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 |
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