Associated Papers
Genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins in Japanese infants.
Ikeda M et al.
Early Human Development, 2025
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA et al.
Nature, 2023
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
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
Karolak JA et al.
American Journal of Medical Genetics. Part A, 2019
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
Select a paper to view details