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: De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts

Researchers

Presenter

  • Aikaterini Voulgaridou

Principal Investigators

  • Yasmin Elgammal

  • Ammar Husami

  • Sana Emberesh

  • Katie Seu

  • Mahesh Ramamoorthy

  • Lisa Trump

  • Nathaniel Barasa

  • Adam S. Nelson

  • Robert B. Lorsbach

  • Laurel Romano

  • Nathan A. Salomonis

  • Wenying Zhang

  • Carolyn Lutzko

  • Theodosia A. Kalfa

Medical Centers

  • Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

  • Division of Bioinformatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

  • Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

  • Sydney Children's Hospital, Randwick, Australia

  • Cleveland State University, Cleveland, OH

Locations

  • United States

  • Australia

Companies

  • N/A

Study Components

Therapeutic Area

  • Genetic Disorder

  • Oncology (ONC)

  • Blood/haematological Diseases

  • Endocrine/metabolic Diseases (ME)

Disease

  • Diamond-Blackfan anemia

  • Alpha-thalassemia myelodysplasia syndrome

  • Anemia

  • Hemochromatosis

Biomarkers

  • Cytidine deaminase

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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