Skip to main content
Yueying Dou on Muck Rack

Yueying Dou

As seen in: Frontiers
Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work. Claim your profile

Get in touch with Yueying

Contact Yueying, search articles and posts on X, monitor coverage, and track replies from one place.

Learn more about Muck Rack

Actions

Share this page

Is this you?

As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile

Articles

A novel homozygous ARFGEF2 splice-site variant causing periventricular nodular heterotopia with microcephaly

|
By Xuefang Liu, Lingyu Pang, Jingjie Li, Wenjuan Wu, Xin Li, Yubing Gong, Fang Chen, Suzhen Sun, Yueying Dou
| Frontiers
Abstract Background: The ARFGEF2 gene encodes the brefeldin A (BFA)-inhibited GEF2 protein (BIG2), which is distributed in the trans-Golgi network and plays a crucial role in neuronal proliferation and migration during cortical development through its regulation of vesicle transport. Pathogenic mutations in the ARFGEF2 gene are associated with autosomal recessive periventricular nodular heterotopia with microcephaly (ARPHM). To date, only slightly more than 20 cases have been reported worldwide.
Open in Who Shared Issue with article?
See all 1 articles