Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference12 articles.
1. Lip pits and deletion 1q32 → 41
2. Report of the committee on clinical disorders, chromosome aberrations and uniparental disomy
3. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome
4. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate
5. A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
Cited by 46 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. Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder;Italian Journal of Pediatrics;2022-07-29
2. High Fat Diet Triggers a Reduction in Body Fat Mass in Female Mice Deficient for Utx demethylase;Scientific Reports;2019-07-11
3. Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study;Frontiers in Pediatrics;2019-02-14
4. Lower Lip Pits: Van der Woude or Kabuki Syndrome?;The Cleft Palate-Craniofacial Journal;2014-11
5. Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation;Molecular Syndromology;2013
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