A case of Conradi-Hünermann-Happle syndrome with typical clinical manifestations confirmed by genetic mutation analysis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A case of Conradi-Hünermann-Happle syndrome with typical clinical manifestations confirmed by genetic mutation analysis

Published:2021-08-01 Issue: Volume:87 Page:892-892
ISSN:0378-6323
Container-title:Indian Journal of Dermatology, Venereology and Leprology
language:en
Short-container-title:IJDVL

Author:

Hong Jun Ki,Han Hye Sung,Seo Seong Jun,Kim Su Yeong¹,Park Kui Young

Affiliation:

1. Department of Pediatrics, Chung-Ang University College of Medicine, Seoul, Korea

Publisher

Scientific Scholar

Subject

Infectious Diseases,Dermatology

Reference5 articles.

1. Novel EBP gene mutations in ConradiHünermann-Happle syndrome;Steijlen;Br J Dermatol,2007

2. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-HünermannHapple syndrome;Has;J Invest Dermatol,2002

3. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle syndrome;Pacault;Eur J Hum Genet,2018

4. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata;Shirahama;Hum Genet,2003

5. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature;Cañueto;Br J Dermatol,2012

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