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Article

FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review.

Journal of paediatrics and child health - 1 Jul 2016

Goel Dimple, Oei Ju Lee, Shand Antonia W, Mowat David, Loo Christine

Abstract excerpt

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Topics

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Share to Comorbidity
Share to Fatal Outcome
Share to Forkhead Transcription Factors
Share to Hirschsprung Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

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Share to Pulmonary Alveoli

Source

Identifiers

PMID: 27439648
DOI: 10.1111/jpc.13191

Genes

FOXF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review.PMID 27439648Read ↗

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.Semantic proximity Read ↗

A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.Semantic proximity Read ↗

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.Semantic proximity Read ↗

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in humanSemantic proximity Read ↗

A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.Semantic proximity Read ↗

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family.Semantic proximity Read ↗

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspectsSemantic proximity Read ↗

Histologic Features and Decreased Lung FOXF1 Gene Expression in Severe Bronchopulmonary Dysplasia without a Genetic Diagnosis of Alveolar Capillary DysplasiaSemantic proximity Read ↗

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary VeinsSemantic proximity Read ↗

Expanding the phenotype of alveolar capillary dysplasia (ACD).Semantic proximity Read ↗

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.Semantic proximity Read ↗

Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.Semantic proximity Read ↗

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