Article details

Williams et al. Clinical Research in Cardiology 2011;100:1087-93.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP23T1737fsX1743c.5208_5209delAGp.Gly1737ThrfsX7 0/180 Biventriculair cardiomyopathy; palmoplantar keratoderma and woolly hair (Carvajal)1Autosomal recessive Mutation details