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

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 enhancer...

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Detalles Bibliográficos
Autores principales: Szafranski, Przemyslaw, Garimella, Rijutha P., Mani, Haresh, Hartman, Ryan, Deutsch, Gail, Silk, Alan, Benheim, Alan, Stankiewicz, Paweł
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10589973/
https://www.ncbi.nlm.nih.gov/pubmed/37865798
http://dx.doi.org/10.1186/s13148-023-01587-6

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