Newly ID’d Mutation in FKBP14 Gene Linked to Kyphoscoliotic EDS
A newly discovered mutation in the FKBP14 gene results in a misfolded protein that causes kyphoscoliotic Ehlers-Danlos Syndrome (kEDS), a rare subtype of this orphan disease marked by a spinal curvature that causes a hunched appearance. Work on a molecular characterization of this mutation…