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

被引：4
|
作者：
Chu, Xue-Ying
Li, Yue-Peng
Nie, Min
Wang, Ou
Jiang, Yan
Li, Mei
Xia, Wei-Bo
Xing, Xiao-Ping [1 ,2 ]
机构：
[1] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Endocrinol, Shuai Fuyuan 1, Beijing 100730, Peoples R China
[2] Peking Union Med Coll, Shuai Fuyuan 1, Beijing 100730, Peoples R China
来源：
CHINESE MEDICAL JOURNAL | 2017年 / 130卷 / 11期
基金：
中国国家自然科学基金;
关键词：
De novo Mutation; GATA-binding Protein 3 Gene; Hypoparathyroidism; Sensorineural Deafness; and Renal Dysplasia Syndrome; HDR SYNDROME;
D O I：
10.4103/0366-6999.206348
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1378 / 1380
页数：3
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