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Article

A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.

Journal of perinatology : official journal of the California Perinatal Association - 1 Feb 2015

Geddes G C, Dimmock D P, Hehir D A, Helbling D C, Kirkpatrick E, Loomba R, Southern J, Waknitz M, Scharer G, Konduri G G

Abstract excerpt

Alveolar capillary dysplasia (ACD) is a rare and lethal cause of hypoxic respiratory failure in the neonate. Here we describe a term neonate with ACD that was found with a previously unreported p.Arg86Pro mutation in the FOXF1 (Forkhead Box-F1) gene and coexisting congenital anomalies, including...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypertension, Pulmonary

Share to Pulmonary Alveoli

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Source

Identifiers

PMID: 25627281
DOI: 10.1038/jp.2014.187

Genes

FOXF1
ACD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25627281-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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