- ... but also the entire sister chromatids). 5 RBM8A Thrombocytopenia-absent radius (TAR) syndrome AR Bilateral absence of radii w/presence of both thumbs; other upper- & lower-limb skeletal anomalies Generally transient thrombocytopenia (<50 platelets/nL); & anomalies of the vertebrae, heart, & ...
- ... aplasia has not been observed in TBS. RBM8A Thrombocytopenia absent radius (TAR) syndrome AR Bilateral absence of radii; other skeletal, cardiac, & GI anomalies In TAR syndrome: thumbs are never absent but may appear malformed; thrombocytopenia is generally transient. BRCA1 BRCA2 BRIP1 ERCC4 FAAP100 ...
- ... between BP2 and BP3 has been associated with thrombocytopenia absent radius (TAR) syndrome . A third type of deletion, sometimes called a ...
- ... radii Genetic Testing Registry: Radial aplasia-thrombocytopenia syndrome Thrombocytopenia-absent radius syndrome National Organization for Rare Disorders (NORD) THROMBOCYTOPENIA-ABSENT ...
- ... not needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized by the absence of ...
- ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2): ...
- ... distinguish it from the genetic change that causes thrombocytopenia-absent radius syndrome (TAR syndrome). TAR syndrome results from the deletion ...
- ... the same disorder. Other. Osteoblastoma of the distal radius and enchondroma ... -related hematodiaphyseal dysplasia Ghosal TNFRSF11B Osteoectasia ...
- ... Fractures of the long bones (e.g., femur, radius, ulna) and rib fractures have been reported in the antenatal and perinatal ... fontanelles Shortened long bones Severe ...
- ... the following: Bilobed nuclear shape. Apparent scarce or ... phase II RADIUS trial (NCT01883362), the addition of midostaurin to standard ...
22 results