Fig. 2From: Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3Variant confirmation by Sanger sequencing. Compound heterozygous variants NM_012398.3: c.688_689del and c.949_952dup in PIP5K1C were detected in both fetuses and their asymptomatic parents and siblings. The red arrow indicates the variant siteBack to article page