Suppr超能文献

[A combination of Duchenne's progressive muscular dystrophy with congenital ichthyosis--a deletion or 2 independent gene mutations at Xp21--Xp22?].

作者信息

Badalian L O, Temin P A, Kamennykh L N, Zavadenko N N, Arkhipov B A

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1988;88(8):48-51.

PMID:3195282
Abstract

The authors describe a combination of Duchenne muscular dystrophy and congenital ichthyosis in a 6.5-year-old boy. This is the first ever description appearing in the world literature. The authors discuss possible variants of mutation (either chromosomal aberration or two independent gene mutations in chromosome 21).

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