Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorrhagic tendency associated with 11q chromosome deletion.[2][3] It manifests as a granular defect within an individual's platelets. It is characterized by thrombocytes with defects in α-granule components which affects the cell's surface area and, consequently, its ability to spread when necessary.[citation needed]
FLI1 has been suggested as a candidate.[4]
See also
References
- ^ "Paris-Trousseau thrombocytopenia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 March 2019.
- ^ "OMIM Entry - # 188025 - THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT". omim.org. Retrieved 15 March 2019.
- ^ Krishnamurti L, Neglia JP, Nagarajan R, et al. (April 2001). "Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome". Am. J. Hematol. 66 (4): 295–9. doi:10.1002/ajh.1061. PMID 11279643. S2CID 20979492.
- ^ Raslova H, Komura E, Le Couédic JP, et al. (July 2004). "FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia". J. Clin. Invest. 114 (1): 77–84. doi:10.1172/JCI21197. PMC 437972. PMID 15232614.
External links
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This page was last edited on 24 August 2023, at 01:33