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Article

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Human molecular genetics - 12 Dec 2000

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

Abstract excerpt

Lissencephaly is a cortical malformation secondary to impaired neuronal migration resulting in mental retardation, epilepsy and motor impairment. It shows a severity spectrum from agyria with a severely thickened cortex to posterior band heterotopia only. The LIS1 gene on 17p13.3 encodes a 45 kDa...

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Share to 1-Alkyl-2-acetylglycerophosphocholine Esterase
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Microtubule-Associated Proteins

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Share to Nervous System Malformations

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Source

Identifiers

PMID: 11115846
DOI: 10.1093/hmg/9.20.3019

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11115846-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.PMID 11115846Read ↗

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