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
- Garvan Institute of Medical Research, Darlinghurst, NSW, Australia
- Institute for Biophysical Chemistry, Hannover Medical School, Hannover, Germany
- Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany
- Institute for Transfusion Medicine, Hannover Medical School, Hannover, Germany
- Department of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany
- Greenwood Genetic Center, Greenwood, South Carolina, USA
- Institute for Clinical Chemistry and Laboratory Medicine, TU Dresden, Dresden, Germany
- Swabian Children's Cancer Centre, Children's Hospital Augsburg, Augsburg, Germany
- Medical Genetics Center, Munich, Germany
- Institute for Clinical Genetics, TU Dresden, Dresden, Germany
- Core Unit for Molecular Tumour Diagnostics, National Centre for Tumour Diseases Dresden, Dresden, Germany
- Department of Pathology-Immunology, University of Geneva, Geneva, Switzerland
- Department of Paediatric Haemostaseology, TU Dresden, Dresden, Germany