Associated Papers
De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance.
Domínguez-Ruiz M et al.
International Journal of Molecular Sciences, 2025
A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.
Hasegawa Y et al.
Endocrine Journal, 2024
HDR syndrome: Large cohort and systematic review.
Rive Le Gouard N et al.
Clinical Genetics, 2024
Clinical sequencing defines the somatic and germline mutation landscapes of Chinese HER2-Low Breast Cancer.
Han BY et al.
Cancer Letters, 2024
A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.
Tao Y et al.
Frontiers in Genetics, 2023
37693317 (PubMed )
Supplement: Table1.xlsx › Sheet1
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations.
Lemos MC et al.
Human Mutation, 2020
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.
Okawa T et al.
Bmc Endocrine Disorders, 2015
The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.
Cheon CK et al.
Yonsei Medical Journal, 2015
HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.
Gomes TS et al.
Klinische Padiatrie, 2012
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
Gaynor KU et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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