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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Bibliographic Details

Published in:	Genome Medicine
Main Authors:	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:	Article
Language:	English
Published:	BMC 2018-07-01
Subjects:	Pulmonary hypertension Congenital heart disease Exome sequencing Genetic association study
Online Access:	http://link.springer.com/article/10.1186/s13073-018-0566-x