Figure 3
From: Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole

Schematic representation of KHDC3L protein structure and all identified mutations in patients with recurrent hydatidiform moles (RHMs). KH stands for K homology domain. Mutations found in patients with two defective alleles are in rectangles with continuous border. The dashed border rectangle corresponds to a single heterozygous variant found in one patient and not seen in controls. The c.17_20delGGTT and c.349+1G>A mutations were identified in the present study.