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Article

A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome.

Chinese medical journal - 5 Jun 2017

Chu Xue-Ying, Li Yue-Peng, Nie Min, Wang Ou, Jiang Yan, Li Mei, Xia Wei-Bo, Xing Xiao-Ping

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PMID: 28524840
DOI: 10.4103/0366-6999.206348
PMCID: PMC5455050

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A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome.PMID 28524840Read ↗

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A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.Semantic proximity Read ↗

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