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
Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.
Bergamasco MI et al.
The Journal of Clinical Investigation, 2024
38557491 (PubMed )
Supplement: jci-134-167672-s087.pdf
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
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
Joseph ADD et al.
Bmc Endocrine Disorders, 2019
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.
Wang L et al.
Chinese Medical Journal, 2017
Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome.
Chen L et al.
The Journal of International Medical Research, 2015
[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province].
Ji YB et al.
Zhonghua Yi Xue Za Zhi, 2009
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