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Article

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.

International journal of molecular sciences - 18 May 2024

Procopio Radha, Fortunato Francesco, Gagliardi Monica, Talarico Mariagrazia, Sammarra Ilaria, Sarubbi Maria Chiara, Malanga Donatella, Annesi Grazia, Gambardella Antonio

Abstract excerpt

Doublecortin, encoded by the DCX gene, plays a crucial role in the neuronal migration process during brain development. Pathogenic variants of the DCX gene are the major causes of the "lissencephaly (LIS) spectrum", which comprehends a milder phenotype like Subcortical Band Heterotopia (SBH) in heterozygous female subjects. We performed targeted sequencing in three unrelated female cases with SBH. We identified...

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Identifiers

PMID: 38791543
DOI: 10.3390/ijms25105505
PMCID: PMC11122195

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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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