Identification of heterozygotic carriers of 21-hydroxylase deficiency: Sensitivity of ACTH stimulation tests
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference30 articles.
1. Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
2. ADRENAL STEROIDOGENESIS IN HETEROZYGOTES FOR 21-HYDROXYLASE DEFICIENCY
3. Clinical and Biological Phenotypes in Late-Onset 21 Hydroxylase Deficiency
4. The detection of the heterozygous carrier for congenital virilizing adrenal hyperplasia
Cited by 36 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. High carrier frequency of CYP21A2 gene mutations in Southern India – underscoring the need for genetic testing in Congenital Adrenal Hyperplasia;Endocrine;2024-03-05
2. Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess;The Journal of Clinical Endocrinology & Metabolism;2023-06-26
3. Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 – A Study of 365 Children and Adolescents;Experimental and Clinical Endocrinology & Diabetes;2020-08-24
4. Genotyp-Phänotyp-Korrelationen bei Kindern und Jugendlichen mit nichtklassischem adrenogenitalen Syndrom mit 21-Hydroxylase-Defekt;Monatsschrift Kinderheilkunde;2020-07-09
5. Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Molecular and Cellular Pediatrics;2020-07-09
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