Article details

Krishnamurthy et al. Indian Journal of Pediatrics 2011;78:866-9.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP23Q1301Xc.3901C>Tp.Gln1301X 0/0 Carvajal syndrome Parents are first cousins and heterozygous for the Q1301X mutation Mutation details