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Article

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

Platelets - 4 Jul 2021

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

Abstract excerpt

Genetic variants in growth factor-independent 1B (GFI1B), encoding transcription factor GFI1B, are causative of platelet-type bleeding disorder-17. Presently, 53 cases of GFI1B associated inherited thrombocytopenia (IT) have been published, however only three were homozygous. The bleeding- and platelet phenotypes of these patients depend on location and inheritance pattern of the GFI1B variant. We report a novel...

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Identifiers

PMID: 32633597
DOI: 10.1080/09537104.2020.1786041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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