Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease characterized by distinctive changes in pulmonary arterioles that lead to progressive pulmonary arterial pressures, right-sided heart failure, and a high mortality rate. Up to 30% of adult and 75% of pediatric PAH cases are associat...

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Detalles Bibliográficos
Autores principales: Zhu, Na, Welch, Carrie L., Wang, Jiayao, Allen, Philip M., Gonzaga-Jauregui, Claudia, Ma, Lijiang, King, Alejandra K., Krishnan, Usha, Rosenzweig, Erika B., Ivy, D. Dunbar, Austin, Eric D., Hamid, Rizwan, Pauciulo, Michael W., Lutz, Katie A., Nichols, William C., Reid, Jeffrey G., Overton, John D., Baras, Aris, Dewey, Frederick E., Shen, Yufeng, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054746/
https://www.ncbi.nlm.nih.gov/pubmed/30029678
http://dx.doi.org/10.1186/s13073-018-0566-x

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