Associated Papers
Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant.
Sorkina E et al.
Clinical Diabetes and Endocrinology, 2020
Cavin 1 function does not follow caveolar morphology.
Timmel T et al.
American Journal of Physiology. Cell Physiology, 2015
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Rajab A et al.
Plos Genetics, 2010
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