首页> 美国卫生研究院文献>Wiley-Blackwell Online Open >A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46XY patients with disorders of sex development

【2h】

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46XY patients with disorders of sex development

机译：来自澳大利亚46XY名性发育障碍人群中睾丸激素升高的婴儿的新型NR5A1变异

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
相似文献
相关主题

摘要

BackgroundNR5A1 loss-of-function mutations are increasingly found to be the cause of 46,XY disorders of sex development (DSD).

机译：背景越来越多地发现NR5A1功能丧失突变是导致性发育（DSD）的46，XY障碍的原因。

著录项

期刊名称 Wiley-Blackwell Online Open
作者
Joyce Y Wu; Ivan N McGown; Lin Lin; John C Achermann; Mark Harris; David M Cowley; Salim Aftimos; Kristen A Neville; Catherine S Choong; Andrew M Cotterill;
展开▼
作者单位

展开▼
年(卷),期 -1(78),4
年度 -1
页码 545–550
总页数 6
原文格式 PDF
正文语种
中图分类
关键词

相似文献

外文文献
中文文献
专利

1. A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development [J] . WuJ.Y., McGownI.N., LinL., Clinical Endocrinology . 2013,第4期

机译：来自澳大利亚46，XY名性发育障碍人群中睾丸激素升高的婴儿的新型NR5A1变体
2. NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients [J] . Knarston Ingrid M., Robevska Gorjana, van den Bergen Jocelyn A., Human mutation . 2019,第2期

机译：NR5A1基因变体在46中压制卵巢特异性WNT信号通路，性行为发展患者的XX疾病
3. Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development [J] . Sally Tantawy, Inas Mazen, Hala Soliman, European journal of endocrinology . 2014,第5期

机译：埃及50名46，XY性发育障碍患者队列中类固醇生成因子1（SF1，NR5A1）编码基因的分析
4. Pervasive Developmental Disorder and Particulate Matter Air Pollution before, during and after Pregnancy: A Case-Cohort Study within the National Infant Medical Check-Up Cohort [C] . Jueun Lee, Suejin Kim, Chul Woo Lee, Joint annual meeting of the International Society of Exposure Science and the International Society for Environmental Epidemiology . 2018

机译：怀孕之前，期间和之后的普遍性发育障碍和特定的空气污染：国家婴儿医学检查队列中的病例队列研究
5. Fetal Testosterone and Early Autism Spectrum Disorder Related Neurodevelopmental Outcomes [D] . Park, Bo Y. 2015

机译：胎儿睾酮和早期自闭症谱系相关神经发育成果
6. Testosterone production during puberty in two 46XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations [O] . Sally Tantawy, Lin Lin, Ilker Akkurt, -1

机译：两名46XY患有性发育障碍和新NR5A1（SF-1）突变的患者在青春期期间产生睾丸激素
7. A novel NR 5 A 1 variant in an infant with elevated testosterone from an A ustralasian cohort of 46, XY patients with disorders of sex development [O] . Joyce Y. Wu, Ivan N. McGown, Lin Lin, 2013

机译：一种新的NR 5 A 1在婴儿中，患有睾丸激素的婴儿，来自患有46名，XY患者的患有性发展障碍的患者

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46XY patients with disorders of sex development

摘要

著录项

相似文献

相关主题

期刊订阅