Suppr超能文献

软骨发育不全:病因、临床表现及治疗

Achondroplasia: Etiology, Clinical Presentation, and Management.

作者信息

Daugherty Allyson

出版信息

Neonatal Netw. 2017 Nov 1;36(6):337-342. doi: 10.1891/0730-0832.36.6.337.

Abstract

By using a literature review, this article examines the implications of achondroplasia. The following areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis; phenotypical characteristics and natural history of the disease; and management, recurrence risk, and genetic counseling. Lastly, implications for nursing in relation to achondroplasia are discussed.

摘要

通过文献综述,本文探讨了软骨发育不全的影响。讨论了以下几个方面:该疾病的临床定义;发病率、病因和发病机制;疾病的表型特征和自然史;以及管理、复发风险和遗传咨询。最后,讨论了与软骨发育不全相关的护理意义。

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