Fig. 2.
Sanger sequencing analysis of CD Family. Probands are indicated by the (arrow). Exome sequenced individuals are indicated with an (*) mark showing the electrophoretic trace for mutations of the CPED1 gene. The probands are homozygous to the mutation in exons 2 (c.241 G/G). Both parents are heterozygous for the mutation (c.241 A/G).