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

A Novel Loss-of-Function <i>SEMA3E</i> 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...

Full description

Bibliographic Details
Main Authors: Alyssa J. J. Paganoni, Federica Amoruso, Javier Porta Pelayo, Beatriz Calleja-Pérez, Valeria Vezzoli, Paolo Duminuco, Alessia Caramello, Roberto Oleari, Alberto Fernández-Jaén, Anna Cariboni
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:International Journal of Molecular Sciences
Subjects:
semaphorin 3E
intellectual disability
cognitive regression
neurodevelopmental disorder
Online Access:https://www.mdpi.com/1422-0067/23/10/5632

Internet

https://www.mdpi.com/1422-0067/23/10/5632

Similar Items