GENODERMATOSIS

作品数：6被引量：5H指数：1
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相关期刊：《World Journal of Dermatology》《Journal of Cosmetics, Dermatological Sciences and Applications》《Chinese Medical Journal》《World Journal of Pediatrics》更多>>
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Application of topical gentamicin-a new era in the treatment of genodermatosis被引量：4
《World Journal of Pediatrics》2021年第6期568-575,共8页Shan Wang Zhou Yang Ying Liu Mu-Tong Zhao Juan Zhao Huan Zhang Zong-Yang Liu Xiao-Ling Wang Lin Ma Yong-Hong Yang 
supported by Children's Medicine Research Project of Beijing Children's Hospital,Capital Medical University(YZZD202002).
Background The clinical use of gentamicin always lies in its antimicrobial activity in the past as an aminoglycoside antibiotic.However,in the past decade,there were considerable interests in therapeutic approaches in...
关键词：Epidermolysis bullosa GENTAMICIN Nagashima-type palmoplantar keratosis Nonsense mutation READTHROUGH 
The Power of Molecular Genetics in Understanding Heritable Skin Disorders: Introduction to the Special Theme on Genodermatosis
《International Journal of Dermatology and Venereology》2021年第2期65-66,共2页Qiaoli Li Yong Yang Jouni Uitto 
Among the over 7,000 heritable disorders,at least 1,000 of them have cutaneous manifestations.Some of these conditions are exclusively limited to the skin,thus being non-syndromic,while some of them are associated wit...
关键词：INVOLVEMENT SKIN primarily 
Compound Heterozygous Mutations Involving Splicing Mutations Cause Rothmund-Thomson Syndrome in Two Chinese Families被引量：1
《International Journal of Dermatology and Venereology》2021年第2期76-81,共6页Chao-Lan Pan Qiao-Yu Cao Yue Li Jia Zhang Zhen Zhang Yu-Meng Wang Fu-Ying Chen Ru-Hong Cheng Xiao-Xiao Wang Zhi-Rong Yao Zhi-Yong Lu Ming Li 
National Nature Science Foundation of China(Nos.82073422 and 81874239);Shanghai Health System Excellent Academic Leader Training Project(No.2018BR22);Pujiang Talents Program(No.18PJ1407300)。
Objective:Biallelic mutations in the RecQ like helicase(RECQL)4 gene,a guardian of the genome,cause Rothmund-Thomson syndrome type II(RTS-II).Two Chinese girls with mild-phenotype RTS-II mainly restricted to their ski...
关键词：exon-skipping GENODERMATOSIS RECQL4 variants Rothmund-Thomson syndrome splice-site mutation 
X linked recessive ichthyosis: Current concepts
《World Journal of Dermatology》2015年第3期129-134,共6页Jaime Toral-López Luz María González-Huerta Sergio A Cuevas-Covarrubias 
In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Hi...
关键词：STS GENE X-LINKED ICHTHYOSIS Steroid SULFATASE GENE deletion Contiguous GENE syndrome GENODERMATOSIS 
Xeroderma Pigmentosum with Desquamative Gingivitis a Rare Case Report and Detailed Review of Literature
《Journal of Cosmetics, Dermatological Sciences and Applications》2011年第4期164-170,共7页Shamimul Hasan Mohammad Abbas Khan 
In xeroderma pigmentosum, a rare genodermatosis, transmitted as an autosomal recessive disorder, excessive solar damage to the skin develops at an early age. The disease is characterized by cutaneous, ocular, neurolog...
关键词：Oral GENODERMATOSIS Xeroderma Pigmentosum Desquamative GINGIVITIS DEVELOPMENTAL TONGUE LESIONS 
History of the Chinese Society of Dermatology： an overview
《Chinese Medical Journal》2009年第19期2258-2260,共3页ZHANG Jian-zhong ZHANG Xue-jun 
The history of Dermatology in China can be traced back to the middle of the 19th century when missionary doctors from America and Europe introduced Western medicine to China and established several hospitals where der...
关键词：Chinese Society of Dermatology Langerhan＇s cells GENODERMATOSIS 
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