A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

• Sofie Symoens ,

  * E-mail: Sofie.Symoens@UGent.be

  Affiliation Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium

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• Fransiska Malfait,

  Affiliation Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium

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• Philip Vlummens,

  Affiliation Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium

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• Trinh Hermanns-Lê,

  Affiliation Department of Dermatopathology, University Hospital of Sart-Tilman, Liège, Belgium

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• Delfien Syx,

  Affiliation Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium

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• Anne De Paepe

  Affiliation Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium

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