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A selection of medical articles on TAR

Greenhalgh, K.L., et al., Thrombocytopenia-absent radius syndrome: a clinical genetic study, Journal of Medical Genetics, 2002, vol. 39, p. 876-881. [A study looking at the phenotype (the visible properties of a human being that are produced by the interaction of the genes and the environment) of 34 persons with TAR syndrome, discussing the genetics of TAR. See also Klopocki, E., et al. below].

Haarman, M., et al., Radiusaplasie mit Thrombocytopenie. Ein genetisches Syndrom., Ergebnisse der Inneren Medizin und Kinderheilkunde, 1975, vol. 37, p. 57-106. [A German review of TAR, including reports of 52 affected individuals and their relatives. This is the only German article on TAR that we know of. In general, non-English articles on TAR of any importance seem to be rare.]

Hall, Judith G., et al.,  Thrombocytopenia with absent radius (TAR)., Medicine, 1969, vol. 48, p. 411-439. [This article was the first major review of the TAR syndrome, but still valid and very informative with several case reports.]

Hall, Judith G., Thrombocytopenia and absent radius (TAR) syndrome., Journal of Medical Genetics, 1987, vol. 24, p. 79-83. [A more recent review of the syndrome by Dr. Hall, and perhaps more easy to read.]

Hedberg, Viking A., Lipton, Jefferey M., Thrombocytopenia with absent radii. A review of 100 cases., The American Journal of Pediatric Hematology and Oncology, 1988, vol. 10, p. 51-64. [Yet another review of the syndrome, with the accent on blood deficiencies associated with TAR.]

Klopocki, E., et al., Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia- Absent Radius Syndrome., The American Journal of Human Genetics, 2007, vol. 80, p. 232-240. [A study on the genetic basis of the TAR syndrome indicating that the inheritance pattern is more complicated than previously assumed. The full text from the American Journal of Human Genetics is available here.]

Schoenecker, Perry L., et al., Dysplasia of the knee associated with the syndrome of thrombocytopenia and absent radius., Journal of Bone and Joint Surgery, 1984, vol. 66-A, p. 421-427. [A description of common knee-problems associated with TAR, and some surgical treatments.]

[Last modified: May 6, 2009]