登录 注册 会员服务 联系我们

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations

  • Published:2022-01-03 Issue: Volume: Page:
  • ISSN:0914-3505
  • Container-title:Congenital Anomalies
  • language:en
  • Short-container-title:Congenital Anomalies

Author:

Elhossini Rasha Moheb1ORCID,Abdel‐Hamid Mohamed S.2,Ashaat Engy1,Otaify Ghada A.1,Dawoud Heba3,Elshimy Khalid4,El Ruby Mona1,Aglan Mona1

Affiliation:

1. Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt

2. Medical Molecular Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt

3. Genetics Unit, Department of Pediatrics Tanta University Tanta Egypt

4. Department of Surgery Tanta University Tanta Egypt

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Reference42 articles.

1. A rare multisystem disorder: Goltz syndrome ‐ case report and brief overview;Jain A;Dermatol Online J,2010

2. Focal Dermal Hypoplasia

3. Focal Dermal Hypoplasia Syndrome

4. Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31. (abstract);Friedman PA;Am J Hum Genet,1988

5. Combined Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome?

Cited by 1 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

同舟云学术

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