Figure 1 | Scientific Reports

Figure 1

From: Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing

Figure 1

Clinical manifestations of the proband and his pedigree.

(A) Clinical manifestations of the proband who had a typical FH phenotype: corneal arcus (up) and xanthoma planum (down). (B) Pedigree of the Study Family with FH. Squares indicate male family members and circles, female family members. Slashes indicate deceased persons. The column of five values under each symbol indicates, from top to bottom, the age in years (as of 2006), the TC levels (in mmol/L) and the LDLR genotypes.

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