Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

BACKGROUND: Disrupted endothelial BMP9/10 signaling may contribute to the pathophysiology of both hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH), yet loss of circulating BMP9 has not been confirmed in individuals with ultra‐rare homozygous GDF2 (BMP9 gene) nons...

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Detalles Bibliográficos
Autores principales: Hodgson, Joshua, Ruiz‐Llorente, Lidia, McDonald, Jamie, Quarrell, Oliver, Ugonna, Kelechi, Bentham, James, Mason, Rebecca, Martin, Jennifer, Moore, David, Bergstrom, Katie, Bayrak‐Toydemir, Pinar, Wooderchak‐Donahue, Whitney, Morrell, Nicholas W., Condliffe, Robin, Bernabeu, Carmelo, Upton, Paul D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683697/
https://www.ncbi.nlm.nih.gov/pubmed/33834622
http://dx.doi.org/10.1002/mgg3.1685

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683697/
https://www.ncbi.nlm.nih.gov/pubmed/33834622
http://dx.doi.org/10.1002/mgg3.1685

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