A novel homozygous <i>GFI1B</i> variant in 2 sisters with thrombocytopenia and severe bleeding tendency.

Brøns, Nanna; Zaninetti, Carlo; Ostrowski, Sisse Rye; Petersen, Jesper; Greinacher, Andreas; Rossing, Maria; Leinøe, Eva

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

Brøns, Nanna; Zaninetti, Carlo; Ostrowski, Sisse Rye; Petersen, Jesper; Greinacher, Andreas; Rossing, Maria; Leinøe, Eva.

Afiliação

Brøns N; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark.
Zaninetti C; Department of Clinical Immunology, Greifswald University Hospital, Greifswald, Germany.
Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Denmark.
Petersen J; Department of Haematology Research Laboratory, Herlev Hospital, Copenhagen University Hospital, Denmark.
Greinacher A; Department of Clinical Immunology, Greifswald University Hospital, Greifswald, Germany.
Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark.
Leinøe E; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark.

Platelets ; 32(5): 701-704, 2021 Jul 04.

Article em En | MEDLINE | ID: mdl-32633597

Assuntos

Hemorragia/fisiopatologia; Proteínas Proto-Oncogênicas/metabolismo; Proteínas Repressoras/metabolismo; Trombocitopenia/fisiopatologia; Adulto; Feminino; Homozigoto; Humanos; Pessoa de Meia-Idade; Mutação

Palavras-chave

GFI1B; inherited thrombocytopenia;platelet disorder and ektacytometry.

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Trombocitopenia / Proteínas Proto-Oncogênicas / Hemorragia Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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