Associated Papers
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
Colman M et al.
Human Mutation, 2022
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
Ishikawa Y et al.
Scientific Reports, 2020
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Giunta C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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