Article details

Cabral et al. Journal of Investigative Dermatology 2010;130:1543-50.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
JUP2S24Xc.71C>Ap.Ser24X 0/108 Wooly hair, palmoplantar keratoderma, skin fragility Three unrelated boys (2-11yrs) were homozygous for the mutation. All had normal cardiac evaluations. Reduced immunostaining of plakoglobin Mutation details
JUP3Splicec.468G>Ap.= 0/108 Wooly/sparse hair, palmoplantar keratoderma, skin fragility1Brother (2yrs) and sister (6mo). Reduced immunostaining of plakoglobin Mutation details