Suppr超能文献

Floating Harbor syndrome. Case report and further syndrome delineation.

作者信息

Midro A T, Olchowik B, Rogowska M, Hubert E, Hassman-Poznańska E, Papasz A, Szulc S, Wiśniewski A

机构信息

Department of Clinical Genetics, Medical Faculty, Bialystok, Poland.

出版信息

Ann Genet. 1997;40(3):133-8.

PMID:9401100
Abstract

Floating Harbor syndrome was diagnosed in a 9 years old girl on the basis of short stature, delayed bone age, mild mental retardation, speech problems and specific craniofacial features. A detailed phenotype description is given and evaluated together with 18 other published case reports according to the concept of the Munich Dysmorphology Database (Stengel-Rutkowski et al., 1996) with the aim to delineate the spectrum of clinical and anthropological features.

摘要

相似文献

8
Weaver syndrome in two Japanese children.
Am J Med Genet. 1991 Nov 1;41(2):221-4. doi: 10.1002/ajmg.1320410218.
9
Mutchinick syndrome in a Japanese girl.
Am J Med Genet. 1999 Mar 12;83(2):96-9.

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