KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype

KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype

Abstract Background Neurodevelopmental disorders have a multifactorial etiology, since biological, genetic, psychosocial and environmental risk factors are involved. Recent studies have been linking neurodevelopmental disorders and intellectual disability with a variety of genes, some of which encod...

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Bibliographic Details
Main Authors: Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadelli
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Italian Journal of Pediatrics
Subjects:
KIRREL3
Neurodevelopmental disorders
Cerebellar hypoplasia
CASK
Case report
Online Access:https://doi.org/10.1186/s13052-023-01488-7

Internet

https://doi.org/10.1186/s13052-023-01488-7

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