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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, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M. Giunta C, et al. Among authors: baumann m. Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15. Genet Med. 2018. PMID: 28617417 Free PMC article.
Uncommon manifestations of neuroborreliosis in children.
Baumann M, Birnbacher R, Koch J, Strobl R, Rostásy K. Baumann M, et al. Eur J Paediatr Neurol. 2010 May;14(3):274-7. doi: 10.1016/j.ejpn.2009.08.003. Epub 2009 Sep 12. Eur J Paediatr Neurol. 2010. PMID: 19748808
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C. Baumann M, et al. Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265013 Free PMC article.
Neuropsychological profile of children after an episode of neuroborreliosis.
Zotter S, Koch J, Schlachter K, Katzensteiner S, Dorninger L, Brunner J, Baumann M, Wolf-Magele A, Schmid H, Ulmer H, Hagspiel S, Rostasy K. Zotter S, et al. Among authors: baumann m. Neuropediatrics. 2013 Dec;44(6):346-53. doi: 10.1055/s-0033-1349724. Epub 2013 Aug 6. Neuropediatrics. 2013. PMID: 23921969
2,132 results