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Article

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

Brain : a journal of neurology - 1 Jan 2013

Bahi-Buisson Nadia, Souville Isabelle, Fourniol Franck J, Toussaint Aurelie, Moores Carolyn A, Houdusse Anne, Lemaitre Jean Yves, Poirier Karine, Khalaf-Nazzal Reham, Hully Marie, Leger Pierre Louis, Elie Caroline, Boddaert Nathalie, Beldjord Cherif, Chelly Jamel, Francis Fiona

Abstract excerpt

X-linked isolated lissencephaly sequence and subcortical band heterotopia are allelic human disorders associated with mutations of doublecortin (DCX), giving both familial and sporadic forms. DCX encodes a microtubule-associated protein involved in neuronal migration during brain development. Structural data show that mutations can fall either in surface residues, likely to impair partner interactions, or in...

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Identifiers

PMID: 23365099
DOI: 10.1093/brain/aws323
PMCID: PMC3562079

Genes

DCX

Provenance

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.

Related research

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New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.PMID 23365099Read ↗

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The location of DCX mutations predicts malformation severity in X-linked lissencephaly.Semantic proximity Read ↗

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.Semantic proximity Read ↗

Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.Semantic proximity Read ↗

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.Semantic proximity Read ↗

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.Semantic proximity Read ↗

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Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1Semantic proximity Read ↗

Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.Semantic proximity Read ↗

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