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Updated: Apr 14, 2026

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
Published on: March 14, 2017
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
Yong Suk Shim1, Woohyeok Choi1, Il Tae Hwang1
1Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
Abstract:
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.
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