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Article

Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.

European journal of endocrinology - 1 Feb 2010

Tomar Neeraj, Bora Hema, Singh Ratnakar, Gupta Nandita, Kaur Punit, Chauhan Shyam Singh, Sharma Yagya Dutta, Goswami Ravinder

Abstract excerpt

OBJECTIVE: Glial cells missing 2 (GCM2) gene encodes a parathyroid-specific transcription factor. We assessed GCM2 gene sequence in patients with isolated hypoparathyroidism (IH). DESIGN: Case-control study. METHODS: Complete DNA sequencing of the GCM2 gene including its exons, promoter, and 5' and 3' UTRs was performed in 24/101 patients with IH. PCR-restriction fragment length polymorphism was used to detect a...

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Source

Identifiers

PMID: 19940031
DOI: 10.1530/EJE-09-0303

Genes

GCM2

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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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