Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia

Abstract Heterozygous SNVs or CNV deletions involving the FOXF1 gene, or its distant enhancer, are causative for 80–90% of cases of alveolar capillary dysplasia with misalignment of pulmonary veins. Recently, we proposed bimodal structure and parental functional dimorphism of the lung-specific FOXF1...

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Bibliographic Details
Main Authors: Przemyslaw Szafranski, Rijutha P. Garimella, Haresh Mani, Ryan Hartman, Gail Deutsch, Alan Silk, Alan Benheim, Paweł Stankiewicz
Format: Article
Language:English
Published: BMC 2023-10-01
Series:Clinical Epigenetics
Subjects:
Online Access:https://doi.org/10.1186/s13148-023-01587-6