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Article

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

BMC medical genetics - 4 May 2007

Laperuta Carmela, Spizzichino Letizia, D'Adamo Pio, Monfregola Jlenia, Maiorino Antonio, D'Eustacchio Angela, Ventruto Valerio, Neri Giovanni, D'Urso Michele, Chiurazzi Pietro, Ursini Matilde Valeria, Miano Maria Giuseppina

Abstract excerpt

BACKGROUND: Cognitive impairments are heterogeneous conditions, and it is estimated that 10% may be caused by a defect of mental function genes on the X chromosome. One of those genes is Aristaless related homeobox (ARX) encoding a polyA-rich homeobox transcription factor essential for cerebral patterning and its mutations cause different neurologic disorders. We reported on the clinical and genetic analysis of...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17480217
DOI: 10.1186/1471-2350-8-25
PMCID: PMC1868705

Genes

ARX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.PMID 17480217Read ↗

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Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.Semantic proximity Read ↗

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