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Article

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.

International journal of molecular sciences - 13 Mar 2022

Poeta Loredana, Malacarne Michela, Padula Agnese, Drongitis Denise, Verrillo Lucia, Lioi Maria Brigida, Chiariello Andrea M, Bianco Simona, Nicodemi Mario, Piccione Maria, Salzano Emanuela, Coviello Domenico, Miano Maria Giuseppina

Abstract excerpt

The X-linked gene encoding aristaless-related homeobox (ARX) is a bi-functional transcription factor capable of activating or repressing gene transcription, whose mutations have been found in a wide spectrum of neurodevelopmental disorders (NDDs); these include cortical malformations, paediatric epilepsy, intellectual disability (ID) and autism. In addition to point mutations, duplications of the ARX locus have...

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Identifiers

PMID: 35328505
DOI: 10.3390/ijms23063084
PMCID: PMC8955779

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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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