Article
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Genome medicine - 20 Jul 2018
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
Abstract excerpt
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 associated with congenital heart disease (PAH-CHD), and the underlying etiology is largely unknown. There are no known major...
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