中华皮肤科杂志 ›› 2022, Vol. 55 ›› Issue (8): 729-730.doi: 10.35541/cjd.20201123

• 病例报告 • 上一篇    下一篇

Bart综合征1家系报告及COL7A1基因突变分析

冯波1    徐琳琳2    黄菲1    于萍萍1    孙慧丽1    鞠双双1    宋卫珍1    马冬梅3    张莉3    王震英3   

  1. 1禹城市人民医院皮肤科，德州  251200；2莱西市人民医院皮肤科，莱西  266600；3山东第一医科大学附属省立医院皮肤科，济南  250021
  • 收稿日期:2020-11-23 修回日期:2021-07-03 发布日期:2022-08-02
  • 通讯作者: 王震英 E-mail:zhenyingwang2002@aliyun.com

Mutation analysis of the COL7A1 gene in a family with Bart syndrome

Feng Bo1, Xu Linlin2, Huang Fei1, Yu Pingping1, Sun Huili1, Ju Shuangshuang1, Song Weizhen1, Ma Dongmei3, Zhang Li3, Wang Zhenying3   

  1. 1Department of Dermatology, The People′s Hospital of Yucheng City, Dezhou 251200, Shandong, China; 2Department of Dermatology, Laixi People′s Hospital, Laixi 266600, Shandong, China; 3Department of Dermatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China
  • Received:2020-11-23 Revised:2021-07-03 Published:2022-08-02
  • Contact: Wang Zhenying E-mail:zhenyingwang2002@aliyun.com

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摘要： 患儿男，3 d，因出生后双下肢皮肤缺损就诊。患儿系G1P1，足月顺产，出生体重3.5 kg，Apgar评分10分。其母既往体健，否认近亲结婚。体检：一般情况尚可，各系统未发现异常，口腔黏膜损害不明显……