An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms improved initially, but he exhibited a biphasic clinical course, re-presenting at 15 months of age with tachypnea, interstitial lung disease, and progressive pulmonary hypertension....

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Detalles Bibliográficos
Autores principales: Flanagan, Frances O., Holtz, Alexander M., Vargas, Sara O., Genetti, Casie A., Schmitz-Abe, Klaus, Casey, Alicia, Kennedy, John C., Raby, Benjamin A., Mullen, Mary P., Fishman, Martha P., Agrawal, Pankaj B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9988848/
https://www.ncbi.nlm.nih.gov/pubmed/36878902
http://dx.doi.org/10.1038/s41525-023-00350-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9988848/
https://www.ncbi.nlm.nih.gov/pubmed/36878902
http://dx.doi.org/10.1038/s41525-023-00350-3

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