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Article

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.

European journal of endocrinology - 1 Feb 2021

Pereda Arrate, Elli Francesca M, Thiele Suzanne, de Sanctis Luisa, Rothenbuhler Anya, Hanna Patrick, Francou Bruno, Ertl Diana Alexandra, Perez de Nanclares Guiomar, Linglart Agnès, Mantovani Giovanna

Abstract excerpt

OBJECTIVE: Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptoms including resistance to PTH and/or to other hormones, ectopic ossifications, brachydactyly type E, early onset obesity, short stature and cognitive difficulties....

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Identifiers

PMID: 33270042
DOI: 10.1530/EJE-20-0625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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