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Article

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.

American journal of medical genetics. Part A - 1 Oct 2012

Delahaye Andrée, Khung-Savatovsky Suonavy, Aboura Azzedine, Guimiot Fabien, Drunat Séverine, Alessandri Jean-Luc, Gérard Marion, Bitoun Pierre, Boumendil Julien, Robin Stéphanie, Huel Chan, Guilherme Romain, Serero Stéphane, Gressens Pierre, Elion Jacques, Verloes Alain, Benzacken Brigitte, Delezoide Anne-Lise, Pipiras Eva

Abstract excerpt

FOXC1 deletion, duplication, and mutations are associated with Axenfeld-Rieger anomaly, and Dandy-Walker malformation spectrum. We describe the clinical history, physical findings, and available brain imaging studies in three fetuses, two children, and one adult with 6p25 deletions encompassing F...

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Source

Identifiers

PMID: 22903608
DOI: 10.1002/ajmg.a.35548

Genes

FOXC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22903608-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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