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: Table1.xlsx › Sheet1
Juvenile idiopathic arthritis associated with a mutation in GATA3.
Patrick AE et al.
Arthritis Research & Therapy, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing.
Lin YH et al.
Mutation Research, 2015
Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.
Nakamura A et al.
Endocrine Journal, 2011
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
Ali A et al.
Human Molecular Genetics, 2007
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