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Article

Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome.

The Journal of international medical research - 1 Oct 2015

Chen Liu, Chen Bing, Leng Wuilin, Lui Xiaotian, Wu Qinan, Ouyang Xinshou, Liang Ziwen

Abstract excerpt

We describe the case of a 21-year-old male with hypocalcaemia, hyperphosphataemia, recurrent limb twitch, deafness, proteinuria, increased serum creatinine and urea nitrogen levels, and shrinkage of both kidneys. Brain computed tomography showed intracranial calcifications. The patient was diagnosed with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome. DNA sequence analysis of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26268891
DOI: 10.1177/0300060515591065

Genes

GATA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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