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Article

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.

Clinical genetics - 1 Jun 2016

Urquhart J E, Beaman G, Byers H, Roberts N A, Chervinsky E, O'Sullivan J, Pilz D, Fry A, Williams S G, Bhaskar S S, Khayat M, Simanovsky N, Shachar I B, Shalev S A, Newman W G

Abstract excerpt

Lissencephaly is a phenotypically and genetically heterogeneous group of cortical brain malformations due to abnormal neuronal migration. The identification of many causative genes has increased the understanding of normal brain development. A consanguineous family was ascertained with three siblings affected by a severe prenatal neurodevelopmental disorder characterised by fronto-parietal pachygyria, agenesis of...

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Identifiers

PMID: 26757254
DOI: 10.1111/cge.12734

Genes

DMRTA2

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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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