论文期刊

取消

高级检索

检索历史清除

首页> Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation> Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.

Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.

导出原文传递

翻译打印收藏纠错

作者： Gorjana,Robevska ^[1] ; Chloe,Hanna ^[1] ; Jocelyn,van den Bergen ^[2] ; John,Welch ^[1] ; Jennifer,Couper ^[3] ; Shannon,Harris ^[4] ; Kriti,Joshi ^[5] ; Justin,Brown ^[4] ; Matthew,Sabin ^[2] ; Andrew,Sinclair ^[6] ; Michele,O'Connell ^[3] ; Katie,Ayers ^[7]

作者单位： Murdoch Children's Research Institute, Melbourne, Victoria, Australia. ^[1] Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia. ^[2] Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Clayton, Victoria, Australia. ^[3] Department of Diabetes and Endocrinology, Women's and Children's Hospital, Adelaide, South Australia, Australia. ^[4] Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia. ^[5] Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia. ^[6] Department of Paediatrics, Monash University, Clayton, Victoria, Australia. ^[7]

关键词 46,XY DSD Differences of sex development SRD5A2 Steroid 5-alpha reductase deficiency T:DHT ratio

主题词男(雄)性(Male);人类(Humans);儿童(Child);突变(Mutation);澳大利亚(Australia);基因检测(Genetic Testing);3-羰基-5-α-类固醇4-脱氢酶(3-Oxo-5-alpha-Steroid 4-Dehydrogenase);睾酮(Testosterone);膜蛋白质类(Membrane Proteins)

DOI 10.1159/000527754

PMID 36724755

发布时间 2023-08-10

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览0

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Sexual development

2023年17卷1期

8-15页

相似文献

中文期刊
外文期刊
学位论文
会议论文

特别提示：本网站仅提供医学学术资源服务，不销售任何药品和器械，有关药品和器械的销售信息，请查阅其他网站。

客服热线：4000-115-888 转3 (周一至周五：8:00至17:00)
|
客服邮箱：yiyao@wanfangdata.com.cn

违法和不良信息举报电话：4000-115-888，举报邮箱：problem@wanfangdata.com.cn，举报专区

官方微信

万方医学小程序

关于我们网站地图知识产权

北京万方数据股份有限公司

万方数据电子出版社

京ICP证010071号

京公网安备11010802020237号

京ICP备08100800号-1

违法和不良信息举报电话：4000-115-888，举报邮箱：problem@wanfangdata.com.cn，举报专区

new翻译充值订阅收藏移动端

官方微信

万方医学小程序

调查问卷