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
Titel:
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
Auteur:
Guastadisegni, Maria Corsignano Roberto, Roberta L’Abbate, Alberto Palumbo, Orazio Carella, Massimo Giordani, Lucia Cecinati, Valerio Giordano, Paola Storlazzi, Clelia Tiziana