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Article

A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Jan 2000

Nanba Kazutaka, Usui Takeshi, Nakamura Michikazu, Toyota Yuko, Hirota Keisho, Tamanaha Tamiko, Kawashima Sachiko-Tsukamoto, Nakao Kanako, Yuno Akiko, Tagami Tetsuya, Naruse Mitsuhide, Shimatsu Akira

Abstract excerpt

OBJECTIVE: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification. METHODS: A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep...

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Share to GATA3 Transcription Factor
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23186964
DOI: 10.4158/EP12186.CR

Genes

GATA3

Variants

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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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