Condition: PULMONARY HYPERTENSION, PRIMARY, 3


rs797044871 in CAV1 gene and PULMONARY HYPERTENSION, PRIMARY, 3 PMID 25898808 2015 Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

PMID 22474227 2012 Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.