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Article

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

International journal of molecular sciences - 18 May 2022

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

Abstract excerpt

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 demonstrated by studies on mouse models. Here, by combining exome sequencing with in silico analyses, we identified a patient...

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Identifiers

PMID: 35628442
DOI: 10.3390/ijms23105632
PMCID: PMC9143429

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