Oral Presentation 2019 Hunter Cell Biology Meeting

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia (#8)

Sharissa L Latham 1 2 , Nadja Ehmke 3 , Patrick YA Reinke 2 , Manuel H Taft 2 , Dorothee Eicke 4 , Theresia Reindl 2 , Werner Stenzel 5 , Michael J Lyons 6 , Michael J Friez 6 , Jennifer A Lee 6 , Ramona Hecker 7 , Michael C Fruehwald 8 , Kerstin Becker 9 , Teresa M Neuhann 9 , Denise Horn 3 , Evelin Schrock 10 , Indra Niehaus 10 , Katharina Sarnow 10 , Konrad Gruetzmann 11 , Luzie Gawehn 10 , Barbara Klink 10 , Andreas Rump 10 , Christine Chaponnier 12 , Constanca Figueiredo 4 , Ralf Knoefler 13 , Dietmar J Manstein 2 , Nataliya Di Donato 10
  1. Garvan Institute of Medical Research, Darlinghurst, NSW, Australia
  2. Institute for Biophysical Chemistry, Hannover Medical School, Hannover, Germany
  3. Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany
  4. Institute for Transfusion Medicine, Hannover Medical School, Hannover, Germany
  5. Department of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany
  6. Greenwood Genetic Center, Greenwood, South Carolina, USA
  7. Institute for Clinical Chemistry and Laboratory Medicine, TU Dresden, Dresden, Germany
  8. Swabian Children's Cancer Centre, Children's Hospital Augsburg, Augsburg, Germany
  9. Medical Genetics Center, Munich, Germany
  10. Institute for Clinical Genetics, TU Dresden, Dresden, Germany
  11. Core Unit for Molecular Tumour Diagnostics, National Centre for Tumour Diseases Dresden, Dresden, Germany
  12. Department of Pathology-Immunology, University of Geneva, Geneva, Switzerland
  13. Department of Paediatric Haemostaseology, TU Dresden, Dresden, Germany
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