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A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4

Serum Creatine KinaseGeneticsInherited Metabolic DiseasePediatricsPathologyCongenital Heart DefectJapanese ChildPtrf-cavin MutationCongenital Heart AnomalyMedicine