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
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
Yang A et al.
Bmc Medical Genetics, 2017
Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.
Muroya K et al.
Endocrine Journal, 2010
[HDR syndrome (GATA3 haploinsufficiency syndrome)].
Mochizuki T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
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