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Article

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.

Acta neuropathologica - 1 Jun 2010

Lecourtois Magalie, Poirier Karine, Friocourt Gaëlle, Jaglin Xavier, Goldenberg Alice, Saugier-Veber Pascale, Chelly Jamel, Laquerrière Annie

Abstract excerpt

Neuronal migration disorders account for a substantial number of cortical malformations, the most severe forms being represented by lissencephalies. Classical lissencephaly has been shown to result from mutations in LIS1 (PAFAH1B1; MIM#601545), DCX (Doublecortin; MIM#300121), ARX (Aristaless-related homeobox gene; MIM#300382), RELN (Reelin; MIM#600514) and VLDLR (Very low density lipoprotein receptor;...

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Source

Identifiers

PMID: 20376468
DOI: 10.1007/s00401-010-0684-z

Genes

ARX
DCX
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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Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.PMID 20376468Read ↗

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