A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
Lipodystrophy syndromes Twin Storage Bedroom are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background.Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by mutations in the polymerase I and transcript release factor (PTRF) gene.It encodes f