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1204 : A Human Bone Marrow Failure Syndrome Caused By a Homozygous Mutation in MYSM1

Researchers

Presenter

  • Ehsan Bahrami

Principal Investigators

  • Tomas Racek

  • Maximilian Witzel

  • Heinrich Schmidt

  • Michael H. Albert

  • Christoph Klein

  • Jacek Puchalka

  • Naschla Greif-Kohistani

  • Daniel Kotlarz

  • Michael Orth

  • Kirsten Lauber

  • Christoph Walz

  • Waleed Al Herz

  • Hans-Peter Horny

Medical Centers

  • Clinic for Radiotherapy and Radiation Oncology, Ludwig-Maximilians University, Munich, Germany

  • Pathology institute, Ludwig Maximillians University, Munich, Germany

  • University Children`s Hospital, Ludwig Maximilians University, Munich, Germany

  • Department of Pediatrics, Kuwait University, Kuwait, Kuwait

Locations

  • Germany

  • Kuwait

Companies

  • N/A

Study Components

Therapeutic Area

  • Blood/haematological Diseases

Disease

  • Thrombocytopenia

  • Fanconi anemia

  • Heart muscle disease

  • Neutropenia

  • Cataract

  • Anemia

Biomarkers

  • Mitogen-activated protein kinase

  • Natural Killer cells

  • Nucleoside diphosphate kinase A

  • Histone H2AX

Drug/Treatment

  • Alemtuzumab

  • fludarabine tablet

  • Ovastat

  • mitomycin

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • Final

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