Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a lowfrequency noncoding RBM8A SNP: a new familial case. - Tassano, Elisa; Gimelli, Stefania; Divizia, Maria Teresa; Lerone, Margherita; Vaccari, Carlotta; Puliti, Aldamaria; Gimelli, Giorgio (Molecular Cytogenetics (17558166), 2015)