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Article

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

Nature genetics - 1 Sept 2000

Hong S E, Shugart Y Y, Huang D T, Shahwan S A, Grant P E, Hourihane J O, Martin N D, Walsh C A

Abstract excerpt

Normal development of the cerebral cortex requires long-range migration of cortical neurons from proliferative regions deep in the brain. Lissencephaly ("smooth brain," from "lissos," meaning smooth, and "encephalos," meaning brain) is a severe developmental disorder in which neuronal migration is impaired, leading to a thickened cerebral cortex whose normally folded contour is simplified and smooth. Two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10973257
DOI: 10.1038/79246

Genes

RELN
VLDLR

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.

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Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.PMID 10973257Read ↗

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