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Article

Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.

The Journal of clinical endocrinology and metabolism - 1 Nov 2014

Mitsui Toshikatsu, Narumi Satoshi, Inokuchi Mikako, Nagasaki Keisuke, Nakazawa Mie, Sasaki Goro, Hasegawa Tomonobu

Abstract excerpt

CONTEXT: In most patients with hypoparathyroidism (HP), the etiology is not defined clinically. Eight genes (AIRE, CASR, CLDN16, GATA3, GCM2, PTH, TBCE, and TRPM6) are known to be responsible genes associated with HP; however, no previous study has screened the eight responsible genes comprehensively in HP patients. OBJECTIVES: This study was conducted to determine the genetic defect in HP patients. We also...

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Source

Identifiers

PMID: 25137426
DOI: 10.1210/jc.2014-2174

Genes

GCM2
CASR
GATA3
AIRE
CLDN16
PTH
TBCE
TRPM6

Variants

Provenance

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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