Suppr超能文献

三兄弟中出现的一种新的尿道下裂-智力发育迟缓综合征。

A new hypospadias-mental retardation syndrome in three brothers.

作者信息

Goldblatt J, Wallis C, Viljoen D

机构信息

Department of Human Genetics and Medicine, University of Cape Town Medical School, Republic of South Africa.

出版信息

Am J Dis Child. 1987 Nov;141(11):1168-9.

PMID:3673966
Abstract

Three brothers had a syndrome of hypospadias and mental retardation in association with microcephaly, craniofacial dysmorphism, joint laxity, and beaked nails. No other family members were affected, and this previously undelineated condition appears to be inherited in either an autosomal recessive or X-linked recessive mode.

摘要

三兄弟患有尿道下裂和智力障碍综合征,伴有小头畸形、颅面畸形、关节松弛和喙状指甲。没有其他家庭成员受影响,这种以前未被描述的病症似乎以常染色体隐性或X连锁隐性模式遗传。

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