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

Genome Medicine

Jul 22, 2018

Na ZhuWendy K Chung

Abstract

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 associa...read more

Mentioned in this Paper

Arterial Pulse Pressure
HMGB Proteins
Pulmonary Arterial Hypertension
Lung
Notch
Genes
Polycyclic Hydrocarbons, Aromatic
Virus Replication
Congenital Heart Disease
Congenital Disorders
24
38
Paper Details
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Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Genome Medicine

Jul 22, 2018

Na ZhuWendy K Chung

PMID: 30029678

DOI: 10.1186/s13073-018-0566-x

Abstract

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 associa...read more

Mentioned in this Paper

Arterial Pulse Pressure
HMGB Proteins
Pulmonary Arterial Hypertension
Lung
Notch
Genes
Polycyclic Hydrocarbons, Aromatic
Virus Replication
Congenital Heart Disease
Congenital Disorders
24
38

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