Fig. 2From: A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalitiesCLTC variant c.3249 + 1G > C associated with the fetal manifestation detected in the family. A Pedigree of the family. B Sanger sequencing spectra showing a de novo heterozygous variant c.3249 + 1 G > C in the fetus while the mother and father carrying the wild typeBack to article page