Colman M, Vroman R, Dhooge T, Malfait Z, Symoens S, Burnyté B, Nampoothiri S, Kariminejad A, Malfait F, Syx D. Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms. Human Mutation. 2022 Sep 12;43(12):1994–2009. doi: 10.1002/humu.24456.
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms