RBM8A and thrombocytopenia-absent radius syndrome: Most patients diagnosed with TAR syndrome have compound heterozygous mutations, including a deletion at the proximal 1q21.1 region (a.k.a., TAR deletion), with a minimal size of 200 kb that encompasses the RBM8A gene and a point mutation in the non-coding region of RBM8A (Albers et al., 2013; Toriello et al., 2016).