Associated Papers
Caveolin-1 associated with severe (pediatric-onset) presentation of pulmonary arterial hypertension.
Farrell R et al.
Pulmonary Circulation, 2022
Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
Karhan AN et al.
European Journal of Endocrinology, 2021
Molecular genetic framework underlying pulmonary arterial hypertension.
Southgate L et al.
Nature Reviews. Cardiology, 2020
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Garg A et al.
American Journal of Medical Genetics. Part A, 2015
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