... situation known as reduced penetrance. ALS10 TADBP_HUMAN TAR DNA-binding protein 43 TAR DNA-binding protein-43 TDP-43 Tests of TARDBP PubMed TAR DNA-BINDING PROTEIN; TARDBP NCBI Gene ClinVar Borroni ...

Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) ... intellectual development.The severity of skeletal problems in TAR syndrome varies among affected individuals. The radius, which ...

... in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized by the absence ... cells involved in clotting (platelets).Most people with TAR syndrome have a mutation in one copy of ...

... involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized by the absence of a ... deletion in chromosome 1 that is associated with TAR syndrome eliminates at least 200,000 DNA base ...

... genetic change that causes thrombocytopenia-absent radius syndrome (TAR syndrome). TAR syndrome results from the deletion of a different, ... Mb deletion occurs. The chromosomal change related to TAR syndrome is often called the 200-kb deletion. ...

... Hoeijmakers JHJ, Vermeulen W, Orioli D. Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Am ...

... characterized by the buildup of a protein called TAR DNA-binding protein 43 (TDP-43) in certain ...

... 4. Citation on PubMed Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, Ravel ...

... characterized by the buildup of a protein called TAR DNA-binding protein 43 (TDP-43) in certain ...