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
Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site.
Gonçalves CI et al.
Frontiers in Endocrinology, 2023
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
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
Belge H et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
HDR syndrome: a novel "de novo" mutation in GATA3 gene.
Ferraris S et al.
American Journal of Medical Genetics. Part A, 2009
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