Suppr超能文献

Acrofacial dysostosis with postaxial limb deficiency.

作者信息

Fryns J P, Van den Berghe H

机构信息

Center for Human Genetics, University of Leuven, Belgium.

出版信息

Am J Med Genet. 1988 Jan;29(1):205-8. doi: 10.1002/ajmg.1320290126.

Abstract

Here we report on an adult man with the postaxial acrofacial dysostosis syndrome, as delineated by Miller et al [1979]. In addition to facial changes strikingly similar to that of the Teacher-Collins syndrome and a cleft soft and hard palate, symmetrical postaxial limb deficiencies with absence of the fifth digital rays in both the upper and lower limbs were present.

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