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.

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Description scientific article published on 15 June 2017
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author: Cecilia Giunta  Neeti Ghali  Jacek Pilch  Marianne Rohrbach  Nayana Lahiri  Ariana Kariminejad  Rebecca C Pollitt 

Publication date June 15, 2017
Language English
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