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Article

Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.

Journal of Korean medical science - 1 Oct 2013

Park So Young, Eom Young Sil, Choi Byoungho, Yi Hyon-Seung, Yu Seung-Hee, Lee Kiyoung, Jin Hyun-Seok, Chung Yoon-Sok, Jung Tae Sik, Lee Sihoon

Abstract excerpt

Isolated hypoparathyroidism (IH) shows heterogeneous phenotypes and can be caused by defects in a variety of genes. The goal of our study was to determine the clinical features and to analyze gene mutations in a large cohort of Korean patients with sporadic or familial IH. We recruited 23 patients. They showed a broad range of onset age and various values of biochemical data. Whole exome sequencing was performed...

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Identifiers

PMID: 24133354
DOI: 10.3346/jkms.2013.28.10.1489
PMCID: PMC3792604

Genes

CASR
PTH

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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