A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic pro...

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Detalles Bibliográficos
Autores principales: Upton, Paul, Richards, Susan, Bates, Angela, Niederhoffer, Karen Y., Morrell, Nicholas W., Christian, Susan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092753/
https://www.ncbi.nlm.nih.gov/pubmed/36259599
http://dx.doi.org/10.1002/ajmg.a.62996

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092753/
https://www.ncbi.nlm.nih.gov/pubmed/36259599
http://dx.doi.org/10.1002/ajmg.a.62996

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