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

PURPOSE: In 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...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2018
Assuntos:
Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5763155/
https://ncbi.nlm.nih.gov/pubmed/28617417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.70
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