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Article

Identification of a novel insertion mutation in GATA3 with HDR syndrome.

Clinical and experimental nephrology - 1 Mar 2005

Mino Yukari, Kuwahara Takashi, Mannami Toshifumi, Shioji Keisuke, Ono Koh, Iwai Naoharu

Abstract excerpt

Recently, a member of the GATA-binding family of transcription factors was shown to be involved in human hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR) syndrome. We report here a Japanese family in which two of the members are affected with HDR syndrome. Sequence analysis of GATA3 showed a heterozygous novel mutation in this family: an unusual mutation at exon 3 (709insC) resulting in a...

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Source

Identifiers

PMID: 15830275
DOI: 10.1007/s10157-004-0327-6

Genes

GATA3

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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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