FKBP14 Gene Mutations Lead to Collagen Protein Buildup in kEDS
Mutations in the FKBP14 gene, a cause of kyphoscoliotic Ehlers-Danlos syndrome (kEDS), lead to the accumulation of collagen protein within connective tissue cells, a case series reported. Typically, collagen is secreted from these cells to add strength, support, and stretchiness to organs and tissues. In kEDS, it instead is…