A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report

ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5′-triphosphate exchange factor that plays an important role in clustering of gephyrin and γ-aminobutyric acid type A receptors in the postsynaptic membrane. Overwhelming evidence suggests that defects in this protein can...

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Detalles Bibliográficos
Autores principales: Qiu, Tong, Dai, Qian, Wang, Qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647271/
https://www.ncbi.nlm.nih.gov/pubmed/34851771
http://dx.doi.org/10.1177/03000605211058372

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647271/
https://www.ncbi.nlm.nih.gov/pubmed/34851771
http://dx.doi.org/10.1177/03000605211058372

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