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Article

Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.

Journal of Korean medical science - 1 Feb 2010

Kim Mi Yeon, Tan Alice Hyun Kyung, Ki Chang-Seok, Lee Ji In, Jang Hye Won, Shin Hyun Won, Kim Sun Wook, Min Yong-Ki, Lee Myung-Shik, Lee Moon-Kyu, Kim Kwang-Won, Chung Jae Hoon

Abstract excerpt

Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism, also known as autosomal dominant hypocalcemia (ADH). Here we describe members of a Korean family...

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Identifiers

PMID: 20119591
DOI: 10.3346/jkms.2010.25.2.317
PMCID: PMC2811305

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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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