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Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency 期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 6
作者:  Xu, Chao;  Jia, Wenyu;  Cheng, Xiangdeng;  Ying, Hui;  Chen, Jing
收藏  |  浏览/下载:29/0  |  提交时间:2019/12/11
Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients 期刊论文
2019, 卷号: 42, 期号: 10, 页码: 1536-1543
作者:  Qin Fang;  Liu Kai;  Zhang Ce;  Sun Xiaolu;  Zhang Yang
收藏  |  浏览/下载:52/0  |  提交时间:2020/01/03
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree 期刊论文
MOLECULAR MEDICINE REPORTS, 2018, 卷号: 17, 期号: 3, 页码: 4265-4272
作者:  Liu, Jia;  Zhang, Xiujuan;  Zhang, Haiqing;  Fang, Li;  Xu, Jin
收藏  |  浏览/下载:3/0  |  提交时间:2019/12/11
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency 期刊论文
JOURNAL OF X-RAY SCIENCE AND TECHNOLOGY, 2018, 卷号: 26, 期号: 2, 页码: 341-346
作者:  Li, Xiao;  Xu, Zhuodong;  Wang, Ximing
收藏  |  浏览/下载:4/0  |  提交时间:2019/12/11
Ovarian Adrenal Rest Tumors Undetected by Imaging Studies and Identified at Surgery in Three Females with Congenital Adrenal Hyperplasia Unresponsive to Increased Hormone Therapy Dosage 期刊论文
ENDOCRINE PATHOLOGY, 2017, 卷号: 28, 页码: 146-151
作者:  Chen, Hua-dong[1];  Huang, Li-e[1];  Zhong, Zhi-hai[1];  Su, Zhe[2];  Jiang, Hong[1]
收藏  |  浏览/下载:8/0  |  提交时间:2019/04/24
A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia 期刊论文
2017, 卷号: 96, 期号: 21, 页码: e6994
作者:  Fu Rong;  Lu Lin;  Jiang Jun;  Nie Min;  Wang Xiaojing
收藏  |  浏览/下载:9/0  |  提交时间:2020/01/04
Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations 期刊论文
2017, 卷号: 45, 期号: 2, 页码: 481-492
作者:  Zhang Bo;  Lu Lin;  Lu Zhaolin
收藏  |  浏览/下载:5/0  |  提交时间:2020/01/04
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11 beta-hydroxylase deficiency 期刊论文
2015, 卷号: 100, 页码: 11-16
作者:  Wang, Xiaojing;  Nie, Min;  Lu, Lin;  Tong, Anli;  Chen, Shi
收藏  |  浏览/下载:11/0  |  提交时间:2020/01/13
Chimeric CYP11B2/CYP11B1 causing 11 beta-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia 期刊论文
2015, 卷号: 101, 页码: 51-55
作者:  Xu, Lingling;  Xia, Weibo;  Wu, Xueyan;  Wang, Xiaojing;  Zhao, Lili
收藏  |  浏览/下载:6/0  |  提交时间:2020/01/13
Identifying a novel mutation of CYP17A1 gene from five Chinese 17??-hydroxylase/17, 20-lyase deficiency patients 期刊论文
Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function, 2013, 卷号: 516, 期号: 2, 页码: 345-350
作者:  Han,B.;  Liu,W.;  Zuo,C.-L.;  Zhu,H.;  Li,L.
收藏  |  浏览/下载:4/0  |  提交时间:2019/12/23


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