Medicine:Paris-Trousseau syndrome
From HandWiki
| Paris-Trousseau syndrome | |
|---|---|
| Other names | Paris-Trousseau thrombocytopenia[1] |
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". https://rarediseases.info.nih.gov/diseases/4224/index.
- ↑ "OMIM Entry - # 188025 - THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT". https://omim.org/entry/188025.
- ↑ "Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome". Am. J. Hematol. 66 (4): 295–9. April 2001. doi:10.1002/ajh.1061. PMID 11279643.
- ↑ "FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia". J. Clin. Invest. 114 (1): 77–84. July 2004. doi:10.1172/JCI21197. PMID 15232614.
External links
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