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

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...

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Detalles Bibliográficos
Autores principales: Ravindran, Ethiraj, Ullah, Noor, Mani, Shyamala, Chew, Elaine Guo Yan, Tandiono, Moses, Foo, Jia Nee, Khor, Chiea Chuen, Kaindl, Angela M., Siddiqi, Saima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9630465/
https://www.ncbi.nlm.nih.gov/pubmed/36341116
http://dx.doi.org/10.3389/fneur.2022.1017654

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9630465/
https://www.ncbi.nlm.nih.gov/pubmed/36341116
http://dx.doi.org/10.3389/fneur.2022.1017654

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