Suppr超能文献

单卵双胞胎中的神经纤维瘤病:一例自发突变病例报告

Neurofibromatosis in monozygotic twins: a case report of spontaneous mutation.

作者信息

Vaughn A J, Bachman D, Sommer A

出版信息

Am J Med Genet. 1981;8(2):155-8. doi: 10.1002/ajmg.1320080205.

Abstract

We report female monozygotic twins with neurofibromatosis. The family history is unremarkable, and careful examination of other family members did not show evidence of the condition. It is concluded that the occurrence in this family is due to a spontaneous mutation arising in one of the parental gametes. This article examines the similarity and difference in manifestations of the disorder in this pair of monozygotic twins.

摘要

我们报告了一对患有神经纤维瘤病的女性单卵双胞胎。家族史无异常,对其他家庭成员的仔细检查未发现该疾病的迹象。结论是,这个家族中该病的发生是由于亲代配子之一发生了自发突变。本文研究了这对单卵双胞胎中该疾病表现的异同。

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