Paris-Trousseau syndrome
Paris-Trousseau syndrome | |
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Classification and external resources | |
OMIM | 188025 |
Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorrhagic tendency associated with 11q chromosome deletion.[1] 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 surfeace area and, consequently, its abitlity to spread when necessary.[2]
FLI1 has been suggested as a candidate.[3]
See also
References
- ↑ 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.
- ↑ Sultan, Nasreen; Sharma, S. K. (April 2015). "Platelet Count and Mean Platelet Volume-Key Hematological Indices in Determination of Various Clinical Perspectives-A Review" (PDF). International Journal of Science and Research. 4 (4): 3347–3350. ISSN 2319-7064. SUB154040. Retrieved 28 September 2015.
- ↑ 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.
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