Suppr超能文献

[Klein-Waardenburg syndrome. Report of 3 cases in a family with a review of the literature].

作者信息

Piechowiak H, Wasmer C, Göbel F D

出版信息

Laryngol Rhinol Otol (Stuttg). 1985 Apr;64(4):194-7.

PMID:4010406
Abstract

On account of a recently developed tinnitus, a young woman with the characteristic features of Klein-Waardenburg's syndrome (impairment of hearing, partial albinism, telecanthus) was hospitalised. The mother and the sister of the patient were also affected by the syndrome, albeit to a lesser degree. The otological aspects of the disease are described. Additionally, the possible association of this genetically determined disorder with certain other diseases, such as achalasia, Hirschsprung's disease or immunodeficiency, is discussed.

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验