- ... Disorders Associated with Radial Aplasia in the Differential Diagnosis of Thrombocytopenia Absent Radius Syndrome View in own window Gene(s) Disorder MOI ...
- ... inheritance 1. Andreassen et al [2004] 2. The diagnosis of thrombocytopenia absent radius syndrome is confirmed by identification of a null heterozygous ...
- 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 ...
- ... deletion, they typically do not show signs and symptoms of the condition. ... National Organization for Rare Disorders (NORD) THROMBOCYTOPENIA- ...
- ... published></health-condition-summary><health-condition-summary ><name >Thrombocytopenia-absent radius syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... 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 ...
- ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2): ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome</url><title >Thrombocytopenia-absent radius syndrome</title><other_ ...
- ... not needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized by the absence of ... unknown how it causes the specific signs and symptoms of TAR syndrome. No cases have been reported ...
- ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007; 80 :232–40. [ ...
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