Associated Papers
[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].
Zuo B et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2026
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 Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.
Prabhu PP et al.
Indian Journal of Nephrology, 0
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