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Entry Name Description Category Pathway Gene
H02654 Boudin-Mortier syndrome ... tissue abnormalities, including aortic dilatation and joint hypermobility. It has been reported that mutations in NPR3 cause this disease. NPR3 encodes the atrial natriuretic peptide clearance receptor. Congenital malformation NPR3 [HSA:4883] [KO:K12325]
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