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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

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Description scientific article published on 05 July 2019
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author: Olivier Vanakker  Sofie Symoens  Delfien Syx  Sarah Delbaere  Tibbe Dhooge  Riet De Rycke  Florence Petit 

Publication date July 5, 2019
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