IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia
Yin, Jinghua1; Ren, Yali2; Lin, Zhimiao1; Wang, Huijun1; Zhou, Yun1; Yang, Yong1
刊名INTERNATIONAL JOURNAL OF DERMATOLOGY
2015-02-01
DOI10.1111/ijd.12655
54期:2页:185-187
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Dermatology
英文摘要

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM 226670) is an autosomal recessive form of EBS, characterized by skin blistering at birth and delayed onset of muscle dystrophy. Mutations in PLEC, the gene encoding plectin, have been identified to be causal for EBS-MD. We report a case of EBS-MD with diffuse alopecia. Genetic study revealed the patient carrying compound heterozygous mutations in PLEC despite the consanguineous parentage.

语种英语
所属项目编号81201220 ; 81271744
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000348512900021
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60458
专题北京大学第一临床医学院_皮肤性病科
作者单位1.Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Lab Electron Microscopy, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Yin, Jinghua,Ren, Yali,Lin, Zhimiao,et al. Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia[J]. INTERNATIONAL JOURNAL OF DERMATOLOGY,2015,54(2):185-187.
APA Yin, Jinghua,Ren, Yali,Lin, Zhimiao,Wang, Huijun,Zhou, Yun,&Yang, Yong.(2015).Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.INTERNATIONAL JOURNAL OF DERMATOLOGY,54(2),185-187.
MLA Yin, Jinghua,et al."Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia".INTERNATIONAL JOURNAL OF DERMATOLOGY 54.2(2015):185-187.
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