Condition: Thrombocytopenia-Absent Radius Syndrome


rs201779890 in LIX1L-AS1;RBM8A gene and Thrombocytopenia-Absent Radius Syndrome PMID 22366785 2012 Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

PMID 28857120 2017 Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.

rs139428292 in RBM8A;LIX1L-AS1 gene and Thrombocytopenia-Absent Radius Syndrome PMID 22366785 2012 Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

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.