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ataxia teleangiektázia

  1. Subject h.ataxia teleangiektázia
    Subject h.Ataxia Telangiectasia
    Entry termsLouis-Barovej syndróm
    ataxia teleangiektatická
    ataxia teleangiectasia
    ataxia-teleangiektázia
    English X referencesLouis-Bar Syndrome
    Scope note in EnglishAn autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
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