Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
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S. Gimelli | G. Gimelli | A. Puliti | M. Lerone | E. Tassano | M. T. Divizia | C. Vaccari | C. Vaccari