Why the study?
Are rare variants in SOX17 associated with pulmonary arterial hypertension with congenital heart disease?
Are rare variants in SOX17 associated with pulmonary arterial hypertension with congenital heart disease?
Rare variants in SOX17 are identified as a novel genetic risk factor for pulmonary arterial hypertension associated with congenital heart disease and idiopathic/familial PAH.
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May warrant SOX17 inclusion in PAH genetic panels; extends known risk genes but leaves clinical adoption open.
Zhu et al. (2018) studied this question.
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