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Article

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

American journal of medical genetics. Part A - 1 Sept 2017

Ovaert Caroline, Busa Tiffany, Faure Emilie, Missirian Chantal, Philip Nicole, Paoli Florent, Milh Mathieu, Macé Loic, Zaffran Stephane

Abstract excerpt

6p25 deletion is a rare but well-known entity. The main clinical features include an abnormal facial appearance, developmental delay, and ocular anomalies. Cardiac anomalies are frequently seen but remain poorly delineated. We describe a 4-year-old girl with 6p25.3 deletion, which includes the FOXC1 gene, typical dysmorphic features associated with developmental delay and oculo-motor anomalies. Aortic valve...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 6

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Share to Heart Defects, Congenital

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Source

Identifiers

PMID: 28657660
DOI: 10.1002/ajmg.a.38331

Genes

FOXC1
FOXC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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