Associated Papers
De Novo mutation of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins: A case report.
Deng L et al.
Medicine, 2021
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.
Jourdan-Voyen L et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition, 2020
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Szafranski P et al.
Human Genetics, 2019
A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.
Everett KV et al.
Pediatric Research, 2017
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Szafranski P et al.
Human Genetics, 2016
Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.
Dharmadhikari AV et al.
Current Genomics, 2015
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P et al.
Human Mutation, 2013
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.
Sen P et al.
European Journal of Human Genetics : Ejhg, 2013
Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.
Slot E et al.
Pulmonary Circulation, 0
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