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53 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Thrombocytopenia Absent Radius Syndrome Synonym: TAR Syndrome Florence Petit , MD, PhD and ... here . Table 1. Molecular Genetic Testing Used in Thrombocytopenia Absent Radius Syndrome View in own window Gene 1 Method Proportion ...
  2. ... more about the gene and chromosome associated with Thrombocytopenia-absent radius syndrome RBM8A chromosome 1 Inheritance TAR syndrome is inherited ... thrombocytopenia syndrome Genetic and Rare Diseases Information Center ... Patient Support and Advocacy Resources National Organization for ...
  3. ... cancer can occur. More About This Health Condition Thrombocytopenia-absent radius syndrome A deletion in the 1q21.1 region of ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2): ...
  4. ... not needed. Health Conditions Related to Genetic Changes Thrombocytopenia-absent radius syndrome Mutations in the RBM8A gene cause thrombocytopenia-absent ...
  5. ... published></health-condition-summary><health-condition-summary ><name >Thrombocytopenia-absent radius syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  6. ... Tapetoretinal degeneration, see Retinitis pigmentosa TAR syndrome, see Thrombocytopenia-absent radius syndrome Tardive tibial muscular dystrophy, see Tibial muscular dystrophy ...
  7. ... see RAPADILINO syndrome Radial aplasia-amegakaryocytic thrombocytopenia, see Thrombocytopenia-absent radius syndrome Radial aplasia-thrombocytopenia syndrome, see Thrombocytopenia-absent radius ...
  8. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome</url><title >Thrombocytopenia-absent radius syndrome</title><other_ ...
  9. ... neurofibromas, iris Lisch nodules, choroidal freckling RBM8A 2 Thrombocytopenia absent radius syndrome AR Not assoc w/chromosome breakage Bilateral absence ...
  10. ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007; 80 :232–40. [ ...
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