First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

RATIONALE: Despite the increased recognition of TBX4 (T-BOX transcription factor 4)-associated pulmonary arterial hypertension (PAH), genotype–phenotype associations are lacking and may provide important insights. OBJECTIVES: To compile and functionally characterize all TBX4 variants reported to dat...

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Detalles Bibliográficos
Autores principales: Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M., Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L., Chung, Wendy K., Berger, Rolf M. F., Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara M. A., Kerstjens-Frederikse, Wilhelmina, Kiely, David G., Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J., Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, A. A. Roger, Wharton, John, Wort, Stephen J., Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M., Martin, Jennifer M., Li, Wei, Swift, Andrew J., Upton, Paul D., Morrell, Nicholas W., Gräf, Stefan, Valverde, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Thoracic Society 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757087/
https://www.ncbi.nlm.nih.gov/pubmed/35852389
http://dx.doi.org/10.1164/rccm.202203-0485OC

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757087/
https://www.ncbi.nlm.nih.gov/pubmed/35852389
http://dx.doi.org/10.1164/rccm.202203-0485OC

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