- ... TAR Syndrome National Library of Medicine Genetics Home Reference Thrombocytopenia-Absent Radius Syndrome National Organization for Rare Disorders (NORD) 55 Kenosia ...
- ... NORD) Catalog of Genes and Diseases from OMIM THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Scientific Articles on PubMed PubMed References Albers CA, Paul DS, Schulze H, Freson K, ...
- ... Stormorken syndrome: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
- ... 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): ...
- ... not needed. Health Conditions Related to Genetic Changes Thrombocytopenia-absent radius syndrome Mutations in the RBM8A gene cause thrombocytopenia-absent ...
- ... CC, Vernon E, Brown KW, Newbury-Ecob RA. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002; ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007; 80 :232–40. [ ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome</url><title >Thrombocytopenia-absent radius syndrome</title><other_ ...
- ... G, Walmer D, Price TM. Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated ... Differential Diagnosis Management Genetic Counseling Resources Molecular ... GeneReviews Links GeneReviews Advanced Search GeneReviews ...
- ... w/thrombocytopenia or leukopenia Increased risk for malignancy Thrombocytopenia-absent radius syndrome (TAR) RBM8A 3 AR Bilateral absence of radii ... of function or dominant-negative interference with function References Literature Cited Allanson JE, Newbury-Ecob RA. Holt- ...
- ... distinctive facies; variable visceral, skeletal, & neurodevelopmental abnormalities RBM8A Thrombocytopenia-absent radius syndrome AR Present in 15%-22% of affected persons ( ...
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