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

@article{Stevenson2015ParisTrousseauTI,
  title={Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.},
  author={W. G. Stetler Stevenson and D J Rabbolini and Lucinda Beutler and Qiang Chen and Sara Gabrielli and Joel P Mackay and Timothy A. Brighton and Christopher M Ward and Marie-Christine Morel-Kopp},
  journal={Blood},
  year={2015},
  volume={126 17},
  pages={
          2027-30
        }
}
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 intellectual disability. We have identified a consanguineous family with autosomal recessive inheritance of a bleeding disorder that mimics Paris-Trousseau thrombocytopenia but has no other features of the… CONTINUE READING

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UK Genotyping and Phenotyping of Platelets Study Group. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion

  • J Stockley, NV Morgan, D Bem
  • defects. Blood
  • 2013

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