Unexpected discovery of syndromic epilepsy during the genetic exploration of a case of leukemia.
Authorea (Authorea)(2022)
摘要
A three-year-old girl with a history of epilepsy seizures was diagnosed with acute lymphoblastic leukemia. A comprehensive genetic study of blast cells led to the discovery of a constitutional deletion of the PCDH19 gene. This description underlines how modern techniques of molecular investigations in hematological disorders may lead to unexpected findings.
更多查看译文
关键词
syndromic epilepsy,leukemia,genetic exploration
AI 理解论文
溯源树
样例
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要