A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression

Intellectual disability (ID) is a neurological disorder arising from early neurodevelopmental defects. The underlying genetic and molecular mechanisms are complex, but are thought to involve, among others, alterations in genes implicated in axon guidance and/or neural circuit formation as demonstrat...

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Detalles Bibliográficos
Autores principales: Paganoni, Alyssa J. J., Amoruso, Federica, Porta Pelayo, Javier, Calleja-Pérez, Beatriz, Vezzoli, Valeria, Duminuco, Paolo, Caramello, Alessia, Oleari, Roberto, Fernández-Jaén, Alberto, Cariboni, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9143429/
https://www.ncbi.nlm.nih.gov/pubmed/35628442
http://dx.doi.org/10.3390/ijms23105632

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9143429/
https://www.ncbi.nlm.nih.gov/pubmed/35628442
http://dx.doi.org/10.3390/ijms23105632

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