Fig. 2.
Molecular analysis. a Schematic representation of FAM20C position on chr7p22.3 and reported variants in exon 6 with c.1228 T > A /p.Ser410Thr of FAM20C. b Sequence chromatogram of the proband (Homozygous for c.1228 T > A /p.Ser410Thr in the FAM20C gene). c Sequence chromatogram of the mother (Heterozygous for c.1228 T > A/p.Ser410Thr in the FAM20C gene). d Sequence chromatogram of the father (Heterozygous for c.1228 T > A/p.Ser410Thr in the FAM20C gene)