Three cases of congenital adrenal hypoplasia with hypogonadotropic hypogonadism due to novel NR0B1 mutation

被引：0
|
作者：
袁晶晶 [1 ]
机构：
[1] Dept Endocrinol,3rd Xiangya Hosp,Centr South Univ
来源：
China Medical Abstracts (Internal Medicine) | 2022年 / 39卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R586 [肾上腺疾病]; R588 [性腺疾病];
学科分类号：
1002 ; 100201 ;
摘要：
Objective To advance the understanding of Xlinked adrenal hypoplasia congenita(XL-AHC) through genetic analysis.Methods Genomic DNA was extracted from peripheral blood of three patients with XL-AHC and their family members as well.Pathogenic genes were screened with whole exome sequencing followed by Sanger sequencing and pedigree verification.
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页码：216 / 216
页数：1
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