High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results from haploinsufficiency of the mesenchymal transcription factor FOXF1 gene. To date, only one case of an ACDMPV‐causative CNV deletion inherited from a very‐low level somatic mosaic mother has been reporte...

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Detalles Bibliográficos
Autores principales: Yıldız Bölükbaşı, Esra, Karolak, Justyna A., Szafranski, Przemyslaw, Gambin, Tomasz, Willard, Nicholas, Abman, Steven H., Galambos, Csaba, Kinsella, John P., Stankiewicz, Paweł
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651602/
https://www.ncbi.nlm.nih.gov/pubmed/36124617
http://dx.doi.org/10.1002/mgg3.2062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651602/
https://www.ncbi.nlm.nih.gov/pubmed/36124617
http://dx.doi.org/10.1002/mgg3.2062

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