Fig. 1

SLURP1 Chr8(GRCh37):g.143823760C > T; c.44C > T; p.Trp15 (Family 1). DSG1 Chr18(GRCh37):g.28906885C > T; c.133C > T; p.Arg45* (Family 2). a, e Simplified pedigrees of the extended Pakistani families investigated with genotypes of affected and unaffected ndividuals. b Electropherograms showing the DNA sequence at the position of SLURP1 c.44 C > T in a heterozygous healthy carrier and homozygous affected individual. c-d Palmoplantar keratoderma in an individual homozygous for SLURP1 c.44 C > T. f Electropherograms showing the DNA sequence at the position of DSG1 c.133C > T in a wild type control and heterozygous affected individual. g-h Palmoplantar Keratoderma in an individual heterozygous for DSG1 c.133C > T