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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2012 | 1 |
2014 | 1 |
2016 | 1 |
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2019 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 55033
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Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.
Am J Med Genet A. 2019 Feb;179(2):317-321. doi: 10.1002/ajmg.a.61006. Epub 2018 Dec 18.
Am J Med Genet A. 2019.
PMID: 30561154
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.
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.
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Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
Dordoni C, Ciaccio C, Venturini M, Calzavara-Pinton P, Ritelli M, Colombi M.
Dordoni C, et al.
Am J Med Genet A. 2016 Aug;170(8):2031-8. doi: 10.1002/ajmg.a.37728. Epub 2016 May 5.
Am J Med Genet A. 2016.
PMID: 27149304
Review.
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Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.
Aldeeri AA, Alazami AM, Hijazi H, Alzahrani F, Alkuraya FS.
Aldeeri AA, et al.
Clin Genet. 2014 Nov;86(5):469-72. doi: 10.1111/cge.12414. Epub 2014 May 22.
Clin Genet. 2014.
PMID: 24773188
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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.
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