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Article

A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism.

Journal of bone and mineral metabolism - 1 Jan 2009

Saito Tasuku, Fukumoto Seiji, Ito Nobuaki, Suzuki Hisanori, Igarashi Takashi, Fujita Toshiro

Abstract excerpt

Hypoparathyroidism is a disease characterized by hypocalcemia and hyperphosphatemia derived from deficient actions of parathyroid hormone (PTH). We report the case of 43-year-old Japanese man with PTH-deficient hypoparathyroidism introduced to an endocrinologist in our hospital. As he had complained of hearing disturbance since the age of 20, we decided to investigate the GATA3 gene. Direct sequencing of PCR...

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Source

Identifiers

PMID: 19057839
DOI: 10.1007/s00774-008-0015-9

Genes

GATA3
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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