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1100 : Radioulnar Synostosis-Hematology (RUS-H) Syndrome: Description of the New Syndrome and Comparison to Similar Syndromes

Researchers

Presenter

  • Mary M. Ruisi

Principal Investigators

  • Daniel Green

  • James B Bussel

  • Rachel Burt

  • Jaclyn Davis

  • Regina A. Macatangay

  • Farid Boulad

  • Shivani Shah

  • Brenda Oiyemhonlan

  • Benjamin T. Kile

Medical Centers

  • UoM, Parkville, Australia

  • Department of Molecular Medicine, Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia

Locations

  • Australia

Companies

  • N/A

Study Components

Therapeutic Area

  • Blood/haematological Diseases

Disease

  • Thrombocytopenia-absent radius syndrome

  • Acute lymphoblastic leukemia

  • Acute myelocytic leukemia

  • Diamond-Blackfan anemia

  • Thrombocytopenia

  • Aplastic anemia

  • Noonan syndrome

  • Cohen syndrome

  • Isolated short stature

  • Oculootoradial syndrome

  • Neutropenia

  • H syndrome

  • Anemia

Biomarkers

  • B-Raf proto-oncogene, serine/threonine kinase

  • Breakpoint Cluster Region

  • Protein Tyrosine Phosphatase, Non-Receptor Type 11

  • Raf-1 proto-oncogene, serine/threonine kinase

  • GTPase Nras

  • Immunoglobulin G

  • KRAS proto-oncogene, GTPase

  • Ribosomal Protein S24

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • cross over

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • Interim

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