Figure 3.

FOXC1 variants associated with childhood glaucoma. (A) Missense and de novo frameshift variants identified by exome sequencing. Thirty-six percent of reads contain the missense variant c.89C>T. (B) Location of identified variants within FOXC1. Scheme adapted from Medina-Trillo et al.³¹ (C) Extent of segmental duplications shown in a schematic representation of partial chromosome 6p25. Shaded areas indicate breakpoint regions. Scheme adapted from Chanda et al.¹⁶