Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome

Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome

ABSTRACT Background RALA is a small GTPase from the RAS superfamily implicated in signal transduction and cytoskeletal dynamics. Recently, de novo variants in RALA have been associated with a neurodevelopmental syndrome characterized by intellectual disability (ID), developmental delay (DD), and sei...

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Main Authors: Alice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, Fabiana Vercellino, Maria Margherita Mancardi, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Federico Zara, Marcello Scala
Format: Article
Language:English
Published: Wiley 2025-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
brain abnormalities
epilepsy
exome sequencing
GTPase
intellectual disability
neurodevelopmental syndrome
Online Access:https://doi.org/10.1002/mgg3.70072
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https://doi.org/10.1002/mgg3.70072

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