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Article

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family.

Pediatric pulmonology - 1 Sept 2016

Reiter Joel, Szafranski Przemyslaw, Breuer Oded, Perles Zeev, Dagan Tamir, Stankiewicz Paweł, Kerem Eitan

Abstract excerpt

BACKGROUND: Heterozygous mutations in the FOXF1 transcription factor gene are implicated in alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a developmental disorder of the lungs classically presenting with pulmonary hypertension and early demise. Evidence has suggested haploinsufficiency and partial paternal imprinting. We present a family with several affected members with an...

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Source

Identifiers

PMID: 27145217
DOI: 10.1002/ppul.23425

Genes

FOXF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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