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Results 1 - 6 of 6 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. 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
  5. 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
  6. 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