Novel compound heterozygous indel ZMPSTE24 mutations in a Taiwanese male infant with restrictive dermopathy

医学 大学医院 妇产科学 家庭医学 生物 怀孕 遗传学
作者
Tzu‐Chien Hsu,Pei‐Hsiu Yu,Yi‐Han Chang,Bryan Edgar K. Guevara,Meng‐Che Tsai,Mei‐Hui Yang,Pei‐Yin Tsai,Julia Yu‐Yun Lee,Sheau‐Chiou Chao,Chao‐Kai Hsu
出处
期刊:Journal of Dermatology [Wiley]
卷期号:49 (8)
标识
DOI:10.1111/1346-8138.16404
摘要

The Journal of DermatologyVolume 49, Issue 8 p. e280-e282 LETTER TO THE EDITOR Novel compound heterozygous indel ZMPSTE24 mutations in a Taiwanese male infant with restrictive dermopathy Tzu-Chien Hsu, Tzu-Chien Hsu orcid.org/0000-0001-5037-0585 Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorPei-Hsiu Yu, Pei-Hsiu Yu Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, TaiwanSearch for more papers by this authorYi-Han Chang, Yi-Han Chang orcid.org/0000-0002-5939-2542 Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorBryan Edgar K. Guevara, Bryan Edgar K. Guevara Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan Department of Dermatology, Southern Philippines Medical Center, Davao, PhilippinesSearch for more papers by this authorMeng-Che Tsai, Meng-Che Tsai Department of Pediatrics, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorMei-Hui Yang, Mei-Hui Yang Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorPei-Yin Tsai, Pei-Yin Tsai Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorJulia Yu-Yun Lee, Julia Yu-Yun Lee Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorSheau-Chiou Chao, Sheau-Chiou Chao Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorChao-Kai Hsu, Corresponding Author Chao-Kai Hsu [email protected] orcid.org/0000-0003-4365-4533 Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan College of Medicine, Institute of Clinical Medicine, National Cheng Kung University, Tainan, Taiwan Correspondence Chao-Kai Hsu, Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, 138 Sheng-Li Road, North District, Tainan City 704, Taiwan. Email: [email protected]Search for more papers by this author Tzu-Chien Hsu, Tzu-Chien Hsu orcid.org/0000-0001-5037-0585 Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorPei-Hsiu Yu, Pei-Hsiu Yu Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, TaiwanSearch for more papers by this authorYi-Han Chang, Yi-Han Chang orcid.org/0000-0002-5939-2542 Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorBryan Edgar K. Guevara, Bryan Edgar K. Guevara Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan Department of Dermatology, Southern Philippines Medical Center, Davao, PhilippinesSearch for more papers by this authorMeng-Che Tsai, Meng-Che Tsai Department of Pediatrics, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorMei-Hui Yang, Mei-Hui Yang Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorPei-Yin Tsai, Pei-Yin Tsai Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorJulia Yu-Yun Lee, Julia Yu-Yun Lee Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorSheau-Chiou Chao, Sheau-Chiou Chao Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanSearch for more papers by this authorChao-Kai Hsu, Corresponding Author Chao-Kai Hsu [email protected] orcid.org/0000-0003-4365-4533 Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan College of Medicine, Institute of Clinical Medicine, National Cheng Kung University, Tainan, Taiwan Correspondence Chao-Kai Hsu, Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, 138 Sheng-Li Road, North District, Tainan City 704, Taiwan. Email: [email protected]Search for more papers by this author First published: 02 May 2022 https://doi.org/10.1111/1346-8138.16404 Hsu and Yu are co-first authors Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. Volume49, Issue8August 2022Pages e280-e282 RelatedInformation
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
1秒前
清爽飞莲发布了新的文献求助10
1秒前
ns发布了新的文献求助10
1秒前
树酱发布了新的文献求助10
1秒前
1秒前
栀璃鸳挽发布了新的文献求助10
1秒前
量子星尘发布了新的文献求助10
3秒前
3秒前
楚楚完成签到 ,获得积分10
3秒前
自觉的丹珍完成签到,获得积分10
3秒前
4秒前
4秒前
5秒前
5秒前
迪迦完成签到,获得积分10
5秒前
宇帕完成签到,获得积分20
6秒前
可爱的函函应助威威采纳,获得10
6秒前
NexusExplorer应助迪迦采纳,获得20
6秒前
我是老大应助felinus采纳,获得10
6秒前
朴素浩然发布了新的文献求助10
6秒前
Hour发布了新的文献求助10
7秒前
这祈祷的声音完成签到 ,获得积分10
7秒前
屁颠屁颠_狼完成签到 ,获得积分0
8秒前
科研通AI6.1应助王QQ采纳,获得10
8秒前
小强呀完成签到,获得积分10
8秒前
RRui完成签到,获得积分10
9秒前
清爽飞莲完成签到,获得积分10
9秒前
hob发布了新的文献求助10
11秒前
宋世伟发布了新的文献求助10
11秒前
量子星尘发布了新的文献求助10
11秒前
11秒前
12秒前
12秒前
语秋完成签到,获得积分10
13秒前
cuijingjinger完成签到,获得积分10
14秒前
随遇而安完成签到 ,获得积分10
14秒前
superxin发布了新的文献求助10
15秒前
15秒前
素直完成签到,获得积分10
16秒前
16秒前
高分求助中
(应助此贴封号)【重要!!请各用户(尤其是新用户)详细阅读】【科研通的精品贴汇总】 10000
Encyclopedia of Forensic and Legal Medicine Third Edition 5000
Introduction to strong mixing conditions volume 1-3 5000
Aerospace Engineering Education During the First Century of Flight 3000
Agyptische Geschichte der 21.30. Dynastie 3000
Les Mantodea de guyane 2000
从k到英国情人 1700
热门求助领域 (近24小时)
化学 材料科学 生物 医学 工程类 计算机科学 有机化学 物理 生物化学 纳米技术 复合材料 内科学 化学工程 人工智能 催化作用 遗传学 数学 基因 量子力学 物理化学
热门帖子
关注 科研通微信公众号,转发送积分 5775312
求助须知:如何正确求助?哪些是违规求助? 5623417
关于积分的说明 15438415
捐赠科研通 4907614
什么是DOI,文献DOI怎么找? 2640811
邀请新用户注册赠送积分活动 1588656
关于科研通互助平台的介绍 1543529