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Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.
Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT. Guastadisegni MC, et al. Among authors: l abbate a, giordani l. Eur J Med Genet. 2012 Feb;55(2):120-3. doi: 10.1016/j.ejmg.2011.11.007. Epub 2011 Dec 8. Eur J Med Genet. 2012. PMID: 22201559
Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion.
Giordano P, Cecinati V, Grassi M, Giordani L, De Mattia D, Santoro N. Giordano P, et al. Among authors: giordani l. Immunopharmacol Immunotoxicol. 2011 Dec;33(4):754-8. doi: 10.3109/08923973.2011.557077. Epub 2011 Mar 23. Immunopharmacol Immunotoxicol. 2011. PMID: 21428712
118 results