17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports
Author:
Publisher
Baishideng Publishing Group Inc.
Subject
General Medicine
Reference21 articles.
1. 17-hydroxylation deficiency in man.
2. Grumbach MM, Hughes IA, Conte FA. Disorder of sex differentiation. In: Larsen PR, Kronenberg HM, Melmed S, editors. Williams Textbook of Endocrinology (10th edition). Philadelphia: Saunders; 2003
3. Male pseudohermaphroditism due to 17α-hydroxylase deficiency
4. Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues.
5. Cloning and Sequence of the Human Gene for P450cl7 (Steroid 17α-Hydroxylase/17,20 Lyase): Similarity with the Gene for P450c21
Cited by 6 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. Novel mutations of the CYP17A1 gene cause disorders of sex development in two-chromosome karyotype 46,XY infants and a literature review: A case report;2023-11-29
2. Bone Microarchitecture and Volumetric Mineral Density Assessed by HR-pQCT in Patients with 21- and 17α-Hydroxylase Deficiency;Calcified Tissue International;2023-10-09
3. Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism;Endocrine, Metabolic & Immune Disorders - Drug Targets;2023-09-07
4. Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review;Frontiers in Endocrinology;2022-12-15
5. Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease;Frontiers in Genetics;2022-08-30
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
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3