Suppr超能文献

Cardio-facio-cutaneous syndrome: three additional cases and review of the literature.

作者信息

Somer M, Peippo M, Aalto-Korte K, Ritvanen A, Niemi K M

机构信息

Department of Medical Genetics, University of Helsinki, Finland.

出版信息

Am J Med Genet. 1992 Nov 15;44(5):691-5. doi: 10.1002/ajmg.1320440531.

Abstract

We report on 3 patients with the cardio-facio-cutaneous (CFC) syndrome. Each of them was a sporadic case in the family. The severity of the psychomotor retardation varied from mild to severe. Skin manifestations were often minimal, but each patient had abnormally curly and brittle hair. A skin biopsy from one of the patients showed vellus hair cysts filled with keratin, and the hair follicles were surrounded by unusually thick fibrotic sheaths.

摘要

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验