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Absent radius
- Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and ... thumbs, while people with other conditions involving an absent radius typically do not. However, there may be other ...
- ... 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized by the ... autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80( ...
- ... needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized by the ...
- Bleeding Disorders (National Library of Medicine)Normally, if you get hurt, your body forms a blood clot to stop the bleeding. For blood to clot, your body needs cells called platelets and proteins known as clotting ...
- ... it from the genetic change that causes thrombocytopenia-absent radius syndrome (TAR syndrome). TAR syndrome results from the ...
- ... leg called the fibula are often underdeveloped or absent, while other bones in the forearm (the radius) and lower leg (the tibia) are unusually short, ...
- ... arms. The most common abnormality is malformed or absent thumbs. Affected ... the radius. People with Nager syndrome sometimes have difficulty fully ...
- Fast Facts on Osteogenesis Imperfecta (Osteogenesis Imperfecta Foundation) - PDFOsteogenesis Imperfecta/Start Here ... Osteogenesis Imperfecta ... Osteogenesis Imperfecta Foundation ... PDF
- Physical Therapy and Occupational Therapy in Progeria (Progeria Research Foundation, Inc.) - PDFGenetic Disorders/Living With ... Genetic Disorders ... Progeria Research Foundation, Inc. ... PDF
