Article
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.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018
Giunta Cecilia, Baumann Matthias, Fauth Christine, Lindert Uschi, Abdalla Ebtesam M, Brady Angela F, Collins James, Dastgir Jahannaz, Donkervoort Sandra, Ghali Neeti, Johnson Diana S, Kariminejad Ariana, Koch Johannes, Kraenzlin Marius, Lahiri Nayana, Lozic Bernarda, Manzur Adnan Y, Morton Jenny E V, Pilch Jacek, Pollitt Rebecca C, Schreiber Gudrun, Shannon Nora L, Sobey Glenda, Vandersteen Anthony, van Dijk Fleur S, Witsch-Baumgartner Martina, Zschocke Johannes, Pope F Michael, Bönnemann Carsten G, Rohrbach Marianne
Abstract excerpt
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to...
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