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Page 1
The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome.
Al-Qattan MM. Al-Qattan MM. J Coll Physicians Surg Pak. 2016 Nov;26(11):912-916. J Coll Physicians Surg Pak. 2016. PMID: 27981927 Review.
The genetic basis of thrombocytopenia-absent radius (TAR) syndrome was recently identified to be related to the RBM8A gene. ...The current paper reviews the pathogenesis of the clinical features of thrombocytopenia-absent radius syndrome …
The genetic basis of thrombocytopenia-absent radius (TAR) syndrome was recently identified to be related to the RBM8A g …
Genomic characterization of the inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Hematol. 2013 Oct;50(4):333-47. doi: 10.1053/j.seminhematol.2013.09.002. Semin Hematol. 2013. PMID: 24246701 Free PMC article. Review.
In the IBMFS, NGS has facilitated the discovery of germline mutations that cause thrombocytopenia absent radii syndrome (TAR), a subset of DC and DBA, and other uncharacterized, but related, disorders. ...
In the IBMFS, NGS has facilitated the discovery of germline mutations that cause thrombocytopenia absent radii syndr …
Thrombocytopenia absent radius syndrome.
de Ybarrondo L, Barratt MS. de Ybarrondo L, et al. Pediatr Rev. 2011 Sep;32(9):399-400; discussion 400. doi: 10.1542/pir.32-9-399. Pediatr Rev. 2011. PMID: 21885665 Review. No abstract available.
Inherited bone marrow failure syndromes in adolescents and young adults.
Wilson DB, Link DC, Mason PJ, Bessler M. Wilson DB, et al. Ann Med. 2014 Sep;46(6):353-63. doi: 10.3109/07853890.2014.915579. Epub 2014 Jun 3. Ann Med. 2014. PMID: 24888387 Free PMC article. Review.
Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. ...
Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii synd …
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C. Albers CA, et al. Curr Opin Genet Dev. 2013 Jun;23(3):316-23. doi: 10.1016/j.gde.2013.02.015. Epub 2013 Apr 17. Curr Opin Genet Dev. 2013. PMID: 23602329 Free article. Review.
Thrombocytopenia with absent radii (TAR) syndrome is a rare disorder combining specific skeletal abnormalities with a reduced platelet count. ...This finding provides new insight into the complex inheritance pattern and new clues to the molecular mecha …
Thrombocytopenia with absent radii (TAR) syndrome is a rare disorder combining specific skeletal abnormalities w …
T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature.
Beauvais D, Cabannes-Hamy A, Leblanc T, Dhédin N, Magda A, Cuccuini W, Clappier E, Vial Y, Boissel N. Beauvais D, et al. J Pediatr Hematol Oncol. 2021 Aug 1;43(6):232-235. doi: 10.1097/MPH.0000000000001919. J Pediatr Hematol Oncol. 2021. PMID: 32815886 Review.
Thrombocytopenia-absent radius (TAR) syndrome is a rare inherited bone marrow failure syndrome not generally associated with acute leukemia. ...This is the first report of T-cell acute lymphoid leukemia occurring in the context of TAR syndrome.. …
Thrombocytopenia-absent radius (TAR) syndrome is a rare inherited bone marrow failure syndrome not generally ass …
Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature.
Jameson-Lee M, Chen K, Ritchie E, Shore T, Al-Khattab O, Gergis U. Jameson-Lee M, et al. Hematol Oncol Stem Cell Ther. 2018 Dec;11(4):245-247. doi: 10.1016/j.hemonc.2017.02.001. Epub 2017 Feb 24. Hematol Oncol Stem Cell Ther. 2018. PMID: 28259746 Free article. Review.
Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital disorder characterized by low platelet counts of various severity, bilateral absent radii but thumbs are usually present. TAR syndrome is not generally associat …
Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital disorder characterized by low platelet co …