S. Scianguetta

RBM8A compound heterozygosity causes a complete TAR phenotype in 3 siblings from two pedigrees: a novel frameshift RBM8A variant, focus on the orthopedic involvement, and review of literature on compound heterozygous patients

Thrombocytopenia with Absent Radii (TAR) syndrome is a rare congenital disorder caused by compound inheritance of a hypomorphic non-coding variant and a null allele of RBM8A . In most patients, the null allele corresponds to a recurrent 1q21.1 microdeletion encompassing RBM8A and adjacent genes, whereas cas...