Associated Papers
Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
Karhan AN et al.
European Journal of Endocrinology, 2021
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
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I et al.
Plos One, 2015
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