Suppr超能文献

一个患有动脉导管未闭且面容异常的大家庭。

A large family with patent ductus arteriosus and unusual face.

作者信息

Davidson H R

机构信息

Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.

出版信息

J Med Genet. 1993 Jun;30(6):503-5. doi: 10.1136/jmg.30.6.503.

Abstract

A large family is described in which patent ductus arteriosus in association with an unusual facial appearance affected nine family members in three generations. The segregation pattern suggests autosomal dominant inheritance with incomplete penetrance with respect to the PDA. The facial features included a broad, high forehead, flat profile, and short nose with a broad, flattened tip.

摘要

本文描述了一个大家庭,其中三代九名家庭成员患有动脉导管未闭,并伴有异常面容。遗传模式表明,动脉导管未闭具有常染色体显性遗传特征,且外显不全。面部特征包括宽阔高耸的额头、扁平的侧面轮廓、短鼻以及宽阔扁平的鼻尖。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f5b/1016426/e2c88cfe412d/jmedgene00008-0058-a.jpg

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