Article details

Li Mura et al. European Journal of Human Genetics 2013;21:1226-31.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP21Del exon 1-14c.1-?_*?del- 0/0 TFC+, N=15  Mutation details