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Article

Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.

Folia neuropathologica - 1 Jan 2009

Schmidt-Sidor Bogna, Szymańska Krystyna, Williamson Kathleen, van Heyningen Veronica, Roszkowski Tomasz, Wierzba-Bobrowicz Teresa, Zaremba Jacek

Abstract excerpt

PPAX6 is an important transcription factor which plays an essential role in brain morphogenesis and eye development. It is related to migration of neuroblasts to the cerebral cortex and deep telencephalic nuclei, and the specification of cellular and regional identity. Disturbances of brain devel...

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Source

Identifiers

PMID: 20054790

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20054790-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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