Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation

Published:2019-04-29 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Horinouchi Tomoko¹^ORCID,Morisada Naoya²,Uemura Hiroyasu³,Kobayashi Daisuke⁴,Nozu Kandai¹^ORCID,Okamoto Nobuhiko⁵^ORCID,Iijima Kazumoto¹

Affiliation:

1. Department of PediatricsKobe University Graduate School of Medicine Kobe Japan

2. Department of Clinical GeneticsHyogo Prefectural Kobe Children's Hospital Kobe Japan

3. Department of PediatricsJapanese Red Cross Society Himeji Hospital Hyogo Japan

4. Department of Orthopaedic SurgeryHyogo Prefectural Kobe Children's Hospital Kobe Japan

5. Department of Medical GeneticsOsaka Women's and Children's Hospital Osaka Japan

Funder

Ministry of Education, Culture, Sports, Science and Technology

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61159

Reference21 articles.

1. Conradi–Hunermann–Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects);Arnold A. W.;British Journal of Dermatology,2012

2. X‐linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male;Aughton D. J.;American Journal of Medical Genetics—Part A,2003

3. Mutations in the gene encoding 3 beta‐hydroxysteroid‐delta 8, delta 7‐isomerase cause X‐linked dominant Conradi–Hunermann syndrome;Braverman N.;Nature Genetics,1999

4. Somatic mosaicism: Implications for disease and transmission genetics;Campbell I. M.;Trends in Genetics,2015

5. Mechanisms of left‐right determination in vertebrates;Capdevila J.;Cell,2000

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