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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Genet Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2018
Témata:
Original Research Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky