Data underlying the research: Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases
Picture №1. Gel of PCR fragments from patient №3. FKBP14 gene, exons 1-4.
Picture №2. Electropherogram of the exon 3 of the FKBP14 gene. A homozygous c.362dupC pathogenic variant in exon 3 of the FKBP14 gene.