Clinical application of CNV-Seq in the diagnosis of children with abnormal brain development in 130 cases
Shaohua Zhu,
Shibing Cheng,
Chunyang Jia
et al.
Abstract:Background To evaluate the diagnostic value of applying genome copy number variation sequencing (CNV-seq) in the genetic etiology of abnormal brain development (ABD).
Methods We selected 130 ABD patients discovered in Gansu Maternal and Child Health Hospital from December 2018 to October 2023 as the research subjects, divided into non-syndrome ABD group and syndrome ABD group, performed CNV-seq testing and analyzed the genetic causes of copy number variation.
Results In the 130 cases, we detected a total of … Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.