Fig. 3

Validation of NGS sequencing by Sanger Sequencing: Sequence chromatograms show the compound heterozygous mutation detected in the patient in the DCHS1 gene in exon 19 (left) and exon 2 (right). The patient’s mother and father were also re-sequenced to verify transmission of one mutation from each parent. DCHS1: RefSeq NM_003737.3