CYP21A2genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge
Author:
Affiliation:
1. Department of Clinical and Chemical Pathology; Cairo University; Giza Egypt
2. Diabetes, Endocrine and Metabolism Pediatric Unit; Cairo University; Giza Egypt
3. Icahn School of Medicine at Mount Sinai; New York New York
Funder
Science and Technology Development Fund
Publisher
Wiley
Subject
History and Philosophy of Science,General Biochemistry, Genetics and Molecular Biology,General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/nyas.13540/fullpdf
Reference28 articles.
1. Congenital adrenal hyperplasia;Speiser;N. Engl. J. Med.,2003
2. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline;Speiser;J. Clin. Endocrinol. Metab.,2010
3. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood;White;Semin. Reprod. Med.,2012
4. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Pang;Pediatrics,1988
5. Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency
Cited by 5 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. Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China;2024
2. Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia;Clinica Chimica Acta;2023-07
3. Common disease-associated gene variants in a Saudi Arabian population;Annals of Saudi Medicine;2022-01
4. Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population;Journal of Endocrinological Investigation;2021-08-02
5. Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations;Journal of Endocrinological Investigation;2020-05-01
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