一名患有甲状旁腺功能减退、感音神经性耳聋和肾发育不良综合征患者的新型GATA结合蛋白3突变 - Suppr

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

作者信息

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

机构信息

Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

出版信息

Chin Med J (Engl). 2017 Jun 5;130(11):1378-1380. doi: 10.4103/0366-6999.206348.

DOI:10.4103/0366-6999.206348

PMID:28524840

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5455050/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/36cb/5455050/13e23dc1c765/CMJ-130-1378-g001.jpg

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Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.甲状旁腺功能减退、耳聋和肾发育不良（HDR）综合征中GATA3突变的特征分析。

J Biol Chem. 2004 May 21;279(21):22624-34. doi: 10.1074/jbc.M401797200. Epub 2004 Feb 24.

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).与10号染色体短臂13区缺失相关的HDR综合征（甲状旁腺功能减退、感音神经性耳聋、肾发育异常）

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

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