Lethal osteogenesis imperfecta type XX caused by compound heterozygous frameshift mutations in MESD

• Julian Stürznickel,
• Katharina Jaehn-Rickert,
• Jozef Zustin,
• Maximilian M. Delsmann,
• Helga Rehder,
• Anna Floriane Hennig,
• Katharina Schoner,
• Alfons Kreczy,
• Thorsten Schinke,
• Michael Amling,
• Uwe Kornak

Affiliations

Julian Stürznickel

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

Katharina Jaehn-Rickert

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

Jozef Zustin

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

Maximilian M. Delsmann

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

Helga Rehder

Medical University of Vienna, Institute of Medical Genetics, Vienna, Austria

Anna Floriane Hennig

University Medical Center Göttingen, Institute of Human Genetics, Göttingen, Germany

Katharina Schoner

Philipps-University Marburg, Institute of Pathology, Marburg, Germany

Alfons Kreczy

REGIOMED Klinikum Coburg, Department of Pathology, Coburg, Germany

Thorsten Schinke

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

Michael Amling

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

Uwe Kornak

University Medical Center Göttingen, Institute of Human Genetics, Göttingen, Germany