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 novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.
Huang B et al.
Molecular Genetics and Metabolism Reports, 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
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation.
Kishi H et al.
Clinical Case Reports, 2020
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations.
Lemos MC et al.
Human Mutation, 2020
Juvenile idiopathic arthritis associated with a mutation in GATA3.
Patrick AE et al.
Arthritis Research & Therapy, 2019
Novel dominant-negative mutant of GATA3 in HDR syndrome.
Ohta M et al.
Journal of Molecular Medicine (berlin, Germany), 2011
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