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Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

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Description scientific article
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author: Daniela Karall  Cecilia Giunta  Marina Colombi  Volker Straub  Marianne Rohrbach  Francesco Muntoni  Franz Rüschendorf 

Publication date January 19, 2012
Language English
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