X连锁少汗性外胚层发育不良1家系EDA基因检测

doi:10.35541/cjd.20210486

中华皮肤科杂志 ›› 2024, Vol. 57 ›› Issue (2): 169-170.doi: 10.35541/cjd.20210486

X连锁少汗性外胚层发育不良1家系EDA基因检测

谭丽华 Shruti Kayastha 孙毅曾同祥

长江大学附属荆州医院皮肤性病科，荆州 434020

收稿日期:2021-07-01 修回日期:2022-01-18 发布日期:2024-02-01
通讯作者: 孙毅 E-mail:jzzxyysy@163.com
基金资助:
湖北省卫生健康科研项目（WJ2021M261）

Mutation analysis of the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia

Tan Lihua, Shruti Kayastha, Sun Yi, Zeng Tonxiang

Department of Dermatology and Venereology, Jingzhou Hospital, Yangtze University, Jingzhou 434020, Hubei, China

Received:2021-07-01 Revised:2022-01-18 Published:2024-02-01
Contact: Sun Yi E-mail:jzzxyysy@163.com
Supported by:
Hubei Province Health and Family Planning Scientific Research Project （WJ2021M261）

摘要/Abstract

摘要： 先证者男，出生后3 d因反复高热、全身皮肤红斑、脱屑就诊。体检：额部突出，无眉毛，头发、睫毛稀疏；皮肤干燥，全身广泛分布大小不等的红色斑片，伴脱屑（图1）；指/趾甲未见异常……

谭丽华 Shruti Kayastha 孙毅曾同祥. X连锁少汗性外胚层发育不良1家系EDA基因检测[J]. 中华皮肤科杂志, 2024,57(2):169-170. doi:10.35541/cjd.20210486

Tan Lihua, Shruti Kayastha, Sun Yi, Zeng Tonxiang . Mutation analysis of the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia[J]. Chinese Journal of Dermatology, 2024, 57(2): 169-170.doi:10.35541/cjd.20210486

参考文献 8

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［7］	Ezer S, Bayés M, Elomaa O, et al. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor⁃like domain and co⁃localizes with cytoskeletal structures at lateral and apical surfaces of cells［J］. Hum Mol Genet, 1999,8（11）:2079⁃2086. doi: 10.1093/hmg/8.11.2079.
［8］	金玉霞, 李素萍, 李晶, 等. X⁃连锁少汗型外胚层发育不良家系的基因突变分析及产前诊断［J］. 中国全科医学, 2021,24（6）:740⁃743. doi: 10.12114/j.issn.1007⁃9572.2020.00.606.

X连锁少汗性外胚层发育不良1家系EDA基因检测

Mutation analysis of the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia

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