Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome
Author:
Affiliation:
1. Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea.
2. Medical Genetics Center, Asan Medical Center, Seoul, Korea.
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
http://e-apem.org/upload/pdf/apem-18-90.pdf
Reference16 articles.
1. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
2. A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
3. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
4. A Case of X-Linked Adrenal Hypoplasia Congenita, Central Precocious Puberty and Absence of the DAX-1 Gene: Implications for Pubertal Regulation
5. Gonadotropin-Dependent Precocious Puberty in a Patient with X-Linked Adrenal Hypoplasia Congenita Caused by a Novel DAX-1 Mutation
Cited by 13 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. Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development;Biomolecules;2023-04-19
2. Pleomorphism of the HPG axis with NR0B1 gene mutation — a case report of longitudinal follow-up of a proband with central precocious puberty;Journal of Pediatric Endocrinology and Metabolism;2022-04-14
3. IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep;Journal of Pediatric Epilepsy;2021-07-13
4. Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita;Annals of Pediatric Endocrinology & Metabolism;2021-06-30
5. Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected;Frontiers in Pediatrics;2020-08-12
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