PMID 24053387 2013 Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
PMID 28857120 2017 Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.