Associated Papers
A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.
Hasegawa Y et al.
Endocrine Journal, 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: Table2.xlsx › Sheet1
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.
Wu CC et al.
Genes, 2019
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.
Wang L et al.
Chinese Medical Journal, 2017
The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.
Cheon CK et al.
Yonsei Medical Journal, 2015
Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing.
Lin YH et al.
Mutation Research, 2015
[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province].
Ji YB et al.
Zhonghua Yi Xue Za Zhi, 2009
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