Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference13 articles.
1. Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia;Annerén;Am J Med Genet,1998
2. Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: Further evidence of a new distinct syndrome;Gentile;Am J Med Genet,1999
3. Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis;Ashraf;Pediatr Diabetes,2005
4. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis;Chappell;Am J Med Genet Part A,2008
5. Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome;Galán-Gómez;Eur J Med Genet,2007
Cited by 39 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. Deletion of RFX6 impairs iPSC-derived islet organoid development and survival, with no impact on PDX1+/NKX6.1+ progenitors;Diabetologia;2024-07-30
2. Deletion of RFX6, a Diabetes-Associated Gene, Impairs iPSC-Derived Islet Organoid Development and Survival, With No Impact on the Generation of PDX1+/NKX6.1+ Progenitors;2024-03-11
3. Human RFX6 regulates endoderm patterning at the primitive gut tube stage;PNAS Nexus;2023-12-21
4. Risk factors for, and genetic association with, intestinal atresia in dairy calves;Animal Genetics;2023-01-13
5. Classification of Neonatal Diabetes;Neonatal and Early Onset Diabetes Mellitus;2023
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