Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency

Published:1992-03-01 Issue:3 Volume:74 Page:667-672
ISSN:0021-972X
Container-title:Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:Journal of Clinical Endocrinology & Metabolism

Author:

Ahlgren R.

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 50 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature;Journal of the Endocrine Society;2022-01-29

2. Translating genomics to the clinical diagnosis of disorders/differences of sex development;Current Topics in Developmental Biology;2019

3. A systematic review and standardized clinical validity assessment of male infertility genes;2018-09-24

4. Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis;Gynecological Endocrinology;2018-01-18

5. Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia;Andrology;2016-02-04

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP