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Article

A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.

American journal of medical genetics. Part A - 1 Apr 2016

Shimojima Keiko, Okamoto Nobuhiko, Yamamoto Toshiyuki

Abstract excerpt

Recent advances in molecular technology have led to the discovery of several genes related to human malformations of cortical development (MCDs). The beta-tubulin class III gene (TUBB3) was identified as a gene responsible for MCDs. Although mouse-model experiments have not revealed any findings of neuronal migration disorders, human TUBB3 mutations have been identified in patients with congenital fibrosis of the...

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Source

Identifiers

PMID: 26739025
DOI: 10.1002/ajmg.a.37545

Genes

TUBB3

Variants

Provenance

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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