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Article

Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS.

The Journal of clinical endocrinology and metabolism - 1 Jun 2017

Usardi Alessia, Mamoune Asmaa, Nattes Elodie, Carel Jean-Claude, Rothenbuhler Anya, Linglart Agnès

Abstract excerpt

Context: Parathormone (PTH) resistance is characterized by hypocalcaemia, hyperphosphatemia, and elevated PTH in the absence of vitamin D deficiency. Pseudohypoparathyroidism type 1A [PHP1A, or inactivating parathormone (PTH)/PTHrp signaling disorder 2, according to the new classification (iPPSD2)], is caused by mutations in the maternal GNAS allele. Objective: To assess PTH resistance over time in 20 patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28323910
DOI: 10.1210/jc.2016-3544

Genes

PTH
GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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