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6 Found
1 Ataxia telangiectasia -- Genetic aspects -- Laboratory manuals : ATM kinase : methods and protocols / edited by Sergei V. Kozlov  2017 1
2 Ataxia Telangiectasia -- genetics : Molecular mechanisms of ataxia telangiectasia / [edited by] Shamim I. Ahmad  2009 1
3 Ataxia telangiectasia -- Molecular aspects : Molecular mechanisms of ataxia telangiectasia / [edited by] Shamim I. Ahmad  2009 1
4 Ataxia Telangiectasia Mutated Proteins -- genetics : ATM kinase : methods and protocols / edited by Sergei V. Kozlov  2017 1
5 Ataxia Telangiectasia -- physiopathology : Molecular mechanisms of ataxia telangiectasia / [edited by] Shamim I. Ahmad  2009 1
6  

Ataxia Telangiectasia Syndrome -- See Ataxia Telangiectasia


An 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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