Figure 1. Pedigree of family showing
genotypes for the c.415 G>A sequence variant in TIMP3.
Affected individuals are shown in black. Genotypes for the c.415 G>A
sequence variant (p.E139K) in TIMP3 are shown underneath.
Abbreviations: G/G represents homozygous wild type and G/A represents
heterozygous for the mutant allele.