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Results 1 - 9 of 9 for Absent radius
  1. Thrombocytopenia-absent radius syndrome 
    Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved ...
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
  2. Chromosome 1 
    ... 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( ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  3. RBM8A gene 
    ... needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized by the ...
    https://medlineplus.gov/genetics/gene/rbm8a - Genetics
  4. 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 ...
    https://medlineplus.gov/bleedingdisorders.html - Health Topics
  5. 1q21.1 microdeletion 
    ... it from the genetic change that causes thrombocytopenia-absent radius syndrome (TAR syndrome). TAR syndrome results from the ...
    https://medlineplus.gov/genetics/condition/1q211-microdeletion - Genetics
  6. Langer mesomelic dysplasia 
    ... 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, ...
    https://medlineplus.gov/.../condition/langer-mesomelic-dysplasia - Genetics
  7. Nager syndrome 
    ... arms. The most common abnormality is malformed or absent thumbs. Affected ... the radius. People with Nager syndrome sometimes have difficulty fully ...
    https://medlineplus.gov/genetics/condition/nager-syndrome - Genetics
  8. Physical Therapy and Occupational Therapy in Progeria (Progeria Research Foundation, Inc.) - PDF  
    Genetic Disorders/Living With ... Genetic Disorders ... Progeria Research Foundation, Inc. ... PDF
    https://www.progeriaresearch.org/.../pdf/Physical Therapy(07-04).pdf - External Health Links
  9. Fast Facts on Osteogenesis Imperfecta (Osteogenesis Imperfecta Foundation) - PDF  
    Osteogenesis Imperfecta/Start Here ... Osteogenesis Imperfecta ... Osteogenesis Imperfecta Foundation ... PDF
    https://oif.org/wp-content/uploads/2019/08/Fast_Facts_About_OI.pdf - External Health Links