Suppr超能文献

Beals syndrome: clinical and molecular investigations in a kindred of Indian descent.

作者信息

Viljoen D, Ramesar R, Behari D

机构信息

Department of Human Genetics, University of Cape Town, Medical School, Observatory, South Africa.

出版信息

Clin Genet. 1991 Mar;39(3):181-8. doi: 10.1111/j.1399-0004.1991.tb03009.x.

Abstract

Eight members of a 3-generation kindred of Indian descent with congenital contractural arachnodactyly (Beals syndrome) have been appraised. Considerable variation was noted in the clinical features of affected persons, and the previously unreported associated finding of clubbing of the fingers and toes was evident in two individuals. The family was investigated using conventional serum and protein markers, and RFLP probes for type I and II collagen. No linkage in affected members could be demonstrated with type I collagen probes.

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