A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]
Author:
Affiliation:
1. Department of Pediatrics, Hokkaido University School of Medicine, Sapporo 060-8635, Japan
Publisher
Japan Endocrine Society
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.jstage.jst.go.jp/article/endocrj/60/2/60_EJ13-0009/_pdf
Reference17 articles.
1. Detection of congenital hypopituitary hypothyroidism: Ten-year experience in The Northwest Regional Screening Program
2. 2. vanTijn DA, De Vijlder JJM, Verkerk PH, VerbeetenJr B, Vulsma T (2005) Neonatal detection of congenital hypothyroidism of central origin. J Clin Endocrinol Metab 90:3350-3359.
3. Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics
4. 4. Miyai K, Azukizawa M, Kumahara Y (1971) Familial isolated thyrotropin deficiency with cretinism. N Engl J Med 285:1043-1048.
5. 5. Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K (1989) Thyroid stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the β-subunit. EMBO J 8:2291-2296.
Cited by 32 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. A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care;Journal of Clinical Research in Pediatric Endocrinology;2022-04-25
2. Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations;Genes;2022-03-30
3. Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family;Hormone Research in Paediatrics;2022
4. The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth;Journal of Clinical Research in Pediatric Endocrinology;2021-12-01
5. Disorders of Hypothalamo‐Pituitary Axis;Brook's Clinical Pediatric Endocrinology;2019-08-30
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