Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit

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Intellectual disability (ID) is a common neurodevelopmental disorder that can arise from genetic mutations ranging from trisomy to single nucleotide polymorphism. Mutations in a growing number of single genes have been identified as causative in ID, including ARHGEF9. Evaluation of 41 ARHGEF9 patien...

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Detalles Bibliográficos
Autores principales: Hines, Dustin J., Contreras, April, Garcia, Betsua, Barker, Jeffrey S., Boren, Austin J., Moufawad El Achkar, Christelle, Moss, Stephen J., Hines, Rochelle M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9095487/
https://www.ncbi.nlm.nih.gov/pubmed/35169261
http://dx.doi.org/10.1038/s41380-022-01468-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9095487/
https://www.ncbi.nlm.nih.gov/pubmed/35169261
http://dx.doi.org/10.1038/s41380-022-01468-z

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