Rothmund-Thomson综合征1例及基因变异分析

doi:10.35541/cjd.20220768

中华皮肤科杂志 ›› 2024, e20220768.doi: 10.35541/cjd.20220768

Rothmund-Thomson综合征1例及基因变异分析

刘林莉,于春水

遂宁市中心医院皮肤科，遂宁 629000

收稿日期:2022-11-02 修回日期:2024-04-24 发布日期:2024-08-08
通讯作者: 于春水 E-mail:373405810@qq.com
基金资助:
遂宁市中心医院科研项目（2019y27）；“遂州英才千人计划”医疗名家项目

A case of Rothmund-Thomson syndrome and genetic variation analysis

Liu Linli, Yu Chunshui

Department of Dermatology, Suining Central Hospital, Suining 629000, Sichuan, China

Received:2022-11-02 Revised:2024-04-24 Published:2024-08-08
Contact: Yu Chunshui E-mail:373405810@qq.com
Supported by:
Research Project of Suining Central Hospital（2019y27）; Medical Celebrity Project of "Suizhou Thousand Talents Plan"

摘要/Abstract

摘要： 患儿男，3岁，因面部、耳部色素斑1年于2022年7月1日就诊。患儿自半岁起面部及耳部出现网状色素斑，暴晒后呈红色，严重时可出现水疱……

刘林莉于春水. Rothmund-Thomson综合征1例及基因变异分析[J]. 中华皮肤科杂志, 2024,e20220768. doi:10.35541/cjd.20220768

Liu Linli, Yu Chunshui. A case of Rothmund-Thomson syndrome and genetic variation analysis[J]. Chinese Journal of Dermatology,2024,e20220768. doi:10.35541/cjd.20220768

参考文献 12

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Rothmund-Thomson综合征1例及基因变异分析

A case of Rothmund-Thomson syndrome and genetic variation analysis

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