Thrombocytopenia absent radius syndrome References

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Ballmaier M, Schulze H, Strau G, et al. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood, Vol. 90 No. 2 (July 15), 1997: pp. 612-619. J Am Soc Hematol.
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Geddis AE. Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Semin Hematol. 2006 Jul;43(3):196-203. Review.
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Goldfarb CA, Wustrack R, Pratt JA, et al. Thumb function and appearance in thrombocytopenia: absent radius syndrome. J Hand Surg [Am]. 2007 Feb;32(2):157-61.
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Greenhalgh KL, Howell RT, Bottani A, et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002 Dec;39(12):876-81.
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Hall JG, Levin J, Kuhn JP, et al. Thrombocytopenia with absent radius (TAR). Medicine (Baltimore). 1969 Nov;48(6):411-39. Review.
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Klopocki E, Schulze H, Strauss G, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2):232-40.
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National Cancer Institute. Inherited Bone Marrow Failure Disorders.
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Orphanet Database.
www.orpha.net