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
HDR syndrome: Large cohort and systematic review.
Rive Le Gouard N et al.
Clinical Genetics, 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
GATA3 abnormalities in six patients with HDR syndrome.
Fukami M et al.
Endocrine Journal, 2011
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