Figure 6: Read-out of the Sanger sequencing of the patient’s and parent’s genomic DNA. It shows the portions of exon 3 of the PHOX2B gene, c.681- 703. Top: the sequence of the patient’s PHOX2B gene revealing the heterozygous frameshift mutation c.691-698 del 8 (genomic sequence accession number ENSG00000109132). Bottom: the sequence of the patient mother’s with the PHOX2B gene being unaffected. Gene: PHOX2B (see Summary).