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Article

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

European journal of human genetics : EJHG - 1 Jan 2001

Matsumoto N, Leventer R J, Kuc J A, Mewborn S K, Dudlicek L L, Ramocki M B, Pilz D T, Mills P L, Das S, Ross M E, Ledbetter D H, Dobyns W B

Abstract excerpt

Subcortical band heterotopia (SBH) comprises part of a spectrum of phenotypes associated with classical lissencephaly (LIS). LIS and SBH are caused by alterations in at least two genes: LIS1 (PAFAH1B1) at 17p13.3 and DCX (doublecortin) at Xq22.3-q23. DCX mutations predominantly cause LIS in hemizygous males and SBH in heterozygous females, and we have evaluated several families with LIS male and SBH female...

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Identifiers

PMID: 11175293
DOI: 10.1038/sj.ejhg.5200548

Genes

DCX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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