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Article

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

Italian journal of pediatrics - 21 Aug 2023

Querzani Andrea, Sirchia Fabio, Rustioni Gianluca, Rossi Alessandra, Orsini Alessandro, Marseglia Gian Luigi, Savasta Salvatore, Chiapparini Luisa, Foiadelli Thomas

Abstract excerpt

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 encoding neuronal cell-adhesion molecules. Among these, KIRREL3 is known to play a role in CNS development, and his variants have...

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Identifiers

PMID: 37605258
DOI: 10.1186/s13052-023-01488-7
PMCID: PMC10441694

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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