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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...

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Principais autores: Tanguy Demaret, René Wintjens, Gwenaelle Sana, Joachim Docquir, Frederic Bertin, Christophe Ide, Olivier Monestier, Deniz Karadurmus, Valerie Benoit, Isabelle Maystadt
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2022-06-01
Serier:Frontiers in Endocrinology
Fag:
PTH1R
iPPSD1
epilepsy
parathyroid hormone
alfacalcidol
GNAS
Online adgang:https://www.frontiersin.org/articles/10.3389/fendo.2022.928284/full
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