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Article

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.

Blood - 22 Oct 2015

Stevenson William S, Rabbolini David J, Beutler Lucinda, Chen Qiang, Gabrielli Sara, Mackay Joel P, Brighton Timothy A, Ward Christopher M, Morel-Kopp Marie-Christine

Abstract excerpt

Hemizygous deletion of a variable region on chromosome 11q containing FLI1 causes an inherited platelet-related bleeding disorder in Paris-Trousseau thrombocytopenia and Jacobsen syndrome. These multisystem disorders are also characterized by heart anomalies, changes in facial structure, and inte...

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Source

Identifiers

PMID: 26316623
DOI: 10.1182/blood-2015-06-650887

Genes

FLI1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26316623-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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