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

Abstract 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...

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Hauptverfasser: Na Zhu, Carrie L. Welch, Jiayao Wang, Philip M. Allen, Claudia Gonzaga-Jauregui, Lijiang Ma, Alejandra K. King, Usha Krishnan, Erika B. Rosenzweig, D. Dunbar Ivy, Eric D. Austin, Rizwan Hamid, Michael W. Pauciulo, Katie A. Lutz, William C. Nichols, Jeffrey G. Reid, John D. Overton, Aris Baras, Frederick E. Dewey, Yufeng Shen, Wendy K. Chung
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2018-07-01
Schriftenreihe:Genome Medicine
Schlagworte:
Pulmonary hypertension
Congenital heart disease
Exome sequencing
Genetic association study
Online Zugang:http://link.springer.com/article/10.1186/s13073-018-0566-x
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