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Article

Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.

European journal of endocrinology - 4 Feb 2022

Canaff Lucie, Guarnieri Vito, Kim Yoojung, Wong Betty Y L, Nolin-Lapalme Alexis, Cole David E C, Minisola Salvatore, Eller-Vainicher Cristina, Cetani Filomena, Repaci Andrea, Turchetti Daniela, Corbetta Sabrina, Scillitani Alfredo, Goltzman David

Abstract excerpt

OBJECTIVE: The aim of this study was to analyze variants of the gene glial cells missing-2 (GCM2), encoding a parathyroid cell-specific transcription factor, in familial hypoparathyroidism and in familial isolated hyperparathyroidism (FIHP) without and with parathyroid carcinoma. DESIGN: We characterized 2 families with hypoparathyroidism and 19 with FIHP in which we examined the mechanism of action of GCM2...

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Identifiers

PMID: 35038313
DOI: 10.1530/EJE-21-0433
PMCID: PMC8859918

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