Case report: expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

• Main Authors: Ravindran, Ethiraj, Ullah, Noor, Mani, Shyamala, Chew, Elaine Guo Yan, Tandiono, Moses, Foo, Jia Nee, Khor, Chiea Chuen, Kaindl, Angela M., Siddiqi, Saima
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2023
• Subjects: Science::Medicine; Neurodevelopmental Disorder; Microcephal
• Online Access: https://hdl.handle.net/10356/171041
• Institution: Nanyang Technological University

RhoGTPase regulators play a key role in the development of the nervous system, and their dysfunction can result in brain malformation and associated disorders. Several guanine nucleotide exchange factors (GEF) have been linked to neurodevelopmental disorders. In line with this, ARHGEF17 has been rec...