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- [1] A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome Journal of Endocrinological Investigation, 2006, 29 : 851 - 853
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- [9] First Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome Due to a Novel Mutation in GATA3 with Gene Amastia and Athelia HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 26 - 26