Article details

Hermida-Prieto et al. European Journal of Human Genetics 2010:Abstract.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC29R375Xc.1123C>Tp.Arg375X 0/0 TFC+; N=2 One patient homozygous for R375X: early and severe phenotype. Another carried digenic mutations: DSC2 R375X and PKP2 R329fsX351 Mutation details
PKP23R329fsX351c.987delp.Ser329ArgfsX23 0/0 TFC+ Digenic DSC2 R375X and PKP2 R329fsX351 Mutation details