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58 results
  1. ... Disorders Associated with Radial Aplasia in the Differential Diagnosis of Thrombocytopenia Absent Radius Syndrome View in own window Gene(s) Disorder MOI ...
  2. ... inheritance 1. Andreassen et al [2004] 2. The diagnosis of thrombocytopenia absent radius syndrome is confirmed by identification of a null heterozygous ...
  3. With bleeding disorders, there is a problem with blood clotting. It may be hard to stop the bleeding. Read about bleeding disorders and treatments. ... Normally, if ...
  4. ... be involved in the development of signs and symptoms. Researchers sometimes refer to 1q21.1 microdeletion as the recurrent distal 1.35-Mb deletion to distinguish it from the genetic change that causes thrombocytopenia-absent radius syndrome (TAR syndrome). TAR syndrome results from the deletion ...
  5. ... deletion, they typically do not show signs and symptoms of the condition. Other ... Patient Support and Advocacy Resources National Organization ...
  6. ... 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): ...
  7. ... not needed. Health Conditions Related to Genetic Changes Thrombocytopenia-absent radius syndrome Mutations in the RBM8A gene cause thrombocytopenia-absent ...
  8. ... published></health-condition-summary><health-condition-summary ><name >Thrombocytopenia-absent radius syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  9. ... Tapetoretinal degeneration, see Retinitis pigmentosa TAR syndrome, see Thrombocytopenia-absent radius syndrome Tardive tibial muscular dystrophy, see Tibial muscular dystrophy ...
  10. ... see RAPADILINO syndrome Radial aplasia-amegakaryocytic thrombocytopenia, see Thrombocytopenia-absent radius syndrome Radial aplasia-thrombocytopenia syndrome, see Thrombocytopenia-absent radius ...
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