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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
Maria Corsignano Guastadisegni, Roberta Roberto, Alberto L’Abbate, Orazio Palumbo, Massimo Carella, Lucia Giordani, Valerio Cecinati, Paola Giordano, Clelia Tiziana StorlazziVolume:
55
Year:
2012
Language:
english
Pages:
124
DOI:
10.1016/j.ejmg.2011.11.007
File:
PDF, 703 KB
english, 2012