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Article

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.

The Journal of clinical endocrinology and metabolism - 1 Nov 2018

Li Dong, Gordon Christopher T, Oufadem Myriam, Amiel Jeanne, Kanwar Harsh S, Bakay Marina, Wang Tiancheng, Hakonarson Hakon, Levine Michael A

Abstract excerpt

Context: Most cases of autosomal dominant isolated hypoparathyroidism are caused by gain-of-function mutations in CASR or GNA11 or dominant negative mutations in GCM2 or PTH. Objective: To identify the genetic etiology for dominantly transmitted isolated hypoparathyroidism in two multigenerational families with 14 affected family members. Methods: We performed whole exome sequencing of DNA from two families and...

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Source

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Identifiers

PMID: 30137364
DOI: 10.1210/jc.2018-01260
PMCID: PMC6194809

Genes

TBX1
CASR
GCM2
GNA11
PTH

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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