A novel HSPG2 splice site mutation causing Schwartz-Jampel syndrome is associated with an impaired lacunocanalicular system

• Simon von Kroge,
• Uwe Kornak,
• Michaela Schweizer,
• Ralf Oheim,
• Michael Amling,
• Tim Rolvien

Affiliations

Simon von Kroge

Department for Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Corresponding author.

Uwe Kornak

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

Michaela Schweizer

Core Facility of Morphology and Electron Microscopy, Center for Molecular Neurobiology Hamburg, Hamburg, Germany

Ralf Oheim

Department for Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Michael Amling

Department for Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Tim Rolvien

Department for Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany