A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency-Reference-Cited by-同舟云学术

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A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency

Published:2020-07-07 Issue:5 Volume:32 Page:701-704
ISSN:0953-7104
Container-title:Platelets
language:en
Short-container-title:Platelets

Author:

Brøns Nanna¹^ORCID,Zaninetti Carlo²^ORCID,Ostrowski Sisse Rye³,Petersen Jesper⁴^ORCID,Greinacher Andreas²,Rossing Maria⁵,Leinøe Eva¹

Affiliation:

1. Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark

2. Department of Clinical Immunology, Greifswald University Hospital, Greifswald, Germany

3. Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Denmark

4. Department of Haematology Research Laboratory, Herlev Hospital, Copenhagen University Hospital, Denmark

5. Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/09537104.2020.1786041

Reference16 articles.

1. GFI1B mutation causes a bleeding disorder with abnormal platelet function

2. Transcription factor defects causing platelet disorders

3. Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger

4. Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia

5. Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37

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