Citations for
1DEL11QD, FLI1, TCDM
Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).
Bernaciak J, Szczałuba K, Derwińska K, Wiśniowiecka-Kowalnik B, Bocian E, Sasiadek MM, Makowska I, Stankiewicz P, Smigiel R.
Am J Med Genet A 146A(19):2449-54. 2008
2FLI1, TCDM, DEL11QD
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia.
Raslova H, Komura E, Le Couedic JP, Larbret F, Debili N, Feunteun J, Danos O, Albagli O, Vainchenker W, Favier R.
J Clin Invest 114(1):77-84. 2004
3TCDM, DEl11QD
A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23.
Breton-Gorius J, et al.
Blood 85(7):1805-14. 1995
4TCDM
A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23.
Favier R, et al.
C R Acad Sci III 316(7):698-701. 1993