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Male pseudohermaphroditism: A case study of 46XY disorder of sexual development using whole‐exome sequencing

机译：男性伪脉络作用：用全外exome测序的46个XY性发展疾病的案例研究

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摘要

The study shows that whole‐exome sequencing is a promising approach to detect novel variants—and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.

机译：该研究表明，全外末端测序是检测DSD中的新型变体和基因候选的有希望的方法，即作为未来方向，可以改善这种异质疾病的诊断基因面板。

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期刊名称 Clinical Case Reports
作者
Oxana Yu. Naumova; Sergey Yu. Rychkov; Olga V. Burenkova; Maria Yu. Solodunova; Irina V. Polyanskaya; Irina A. Arintcina; Marina A. Zhukova; Irina V. Ovchinnikova; Olga V. Zhukova; Elena L. Grigorenko;
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年(卷),期 2020(8),12
年度 2020
页码 2889–2894
总页数 6
原文格式 PDF
正文语种
中图分类
关键词
46; XY disorder of sexual development; androgen insensitivity syndrome; disease‐related variant; whole‐exome sequencing;

机译：46;XY性发展障碍;雄激素不敏感综合征;疾病相关的变体;全面排序;

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专利

1. Clinical, hormonal and radiological profile of 46XY disorders of sexual development [J] . Chauhan Vasundhera, Viveka P Jyotsna, Devasenathipathy Kandasamy, Indian Journal of Endocrinology and Metabolism . 2016,第3期

机译：46XY性发育障碍的临床，激素和放射学特征
2. 46XY Disorder of Sexual Development in Menstrual Dysfunction [J] . Jayaben S. Charania, Vidya V. Salaskar Journal of Obstetrics and Gynecology of India . 2013,第3期

机译：月经功能障碍性发育的46XY障碍
3. DISORDER OF SEX DEVELOPMENT: DESCRIPTION OF 2 CASES OF MALE PSEUDOHERMAPHRODITISM [J] . C. Varetti, A. Burgio, G. Di Maggio, Journal of the Siena Academy of Sciences . 2009,第1期

机译：性发育障碍：2种男性假性皮肤病的描述
4. A First Foray into the Development and Implementation of Exome Sequencing in a Clinical Diagnostic Setting [C] . Hannah Kennedy, Kit Doudney, Peter George Molecular Medicine TRI-CON. . 2014

机译：临床诊断环境中EXMES测序的开发和实施第一部分。
5. The Utility of Whole Exome Sequencing in Patients with Intellectual Disability and Developmental Delay as a First-Tier Diagnostic Testing Strategy [D] . ?Richardson, Ellen 2020

机译：全基因组测序的患者效用智障和发展迟缓的一线诊断测试策略
6. Exome Sequencing for the Diagnosis of 46XY Disorders of Sex Development [O] . Ruth M. Baxter, Valerie A. Arboleda, Hane Lee, -1

机译：外显子测序对46XY性发育障碍的诊断
7. Hormonal suppression of mini-puberty in a neonate with mosaic 45X/46XY disorder of sexual development [O] . Martin Kaefer, Erica Eugster 2020

机译：用马赛克45x / 46xy性发展疾病的新生儿迷你青春期的激素抑制

Male pseudohermaphroditism: A case study of 46XY disorder of sexual development using whole‐exome sequencing

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