Suppr超能文献

一种与面部发育异常和生殖器畸形相关的家族性身材矮小综合征。

A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

作者信息

Aarskog D

出版信息

Birth Defects Orig Artic Ser. 1971 May;7(6):235-9.

PMID:4155960
Abstract

The following report presents the clinical findings and natural history of a growth disorder affecting seven male patients from the same family. In addition to short stature they all had a similar pattern of anomalies and the condition appears to constitute a previously undescribed, probably X-linked recessive, nosologic entity.

摘要

以下报告介绍了一种影响来自同一家庭的七名男性患者的生长障碍的临床发现和自然病史。除身材矮小外,他们都有相似的异常模式,这种情况似乎构成了一种以前未被描述过的、可能是X连锁隐性的疾病实体。

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