Difference between revisions of "Ataxia telangiectasia"
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'''Ataxia telangiectasia''', abbreviated AT, is rare | '''Ataxia telangiectasia''', abbreviated AT, is rare autosomal recessive disorder,<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> characterized by cerebellar pathology (ataxia) and abnormal (dilated) blood vessels (telangiectasia). It is grouped with the [[neurocutaneous syndromes]]. | ||
AT is characterized by:<Ref>URL: [http://www.ncbi.nlm.nih.gov/omim/208900 http://www.ncbi.nlm.nih.gov/omim/208900]. Accessed on: 3 February 2011.</ref> | AT is characterized by:<Ref>URL: [http://www.ncbi.nlm.nih.gov/omim/208900 http://www.ncbi.nlm.nih.gov/omim/208900]. Accessed on: 3 February 2011.</ref> | ||
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*High propensity to develop malignancy. | *High propensity to develop malignancy. | ||
*Ataxia. | *Ataxia. | ||
*Telangiectasias - conjunctiva, skin.<ref name=Ref_PBoD8_1323>{{Ref PBoD8|1323}}</ref> | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Revision as of 03:39, 31 March 2011
Ataxia telangiectasia, abbreviated AT, is rare autosomal recessive disorder,[1] characterized by cerebellar pathology (ataxia) and abnormal (dilated) blood vessels (telangiectasia). It is grouped with the neurocutaneous syndromes.
AT is characterized by:[2]
- Immunodeficiency.
- High propensity to develop malignancy.
- Ataxia.
- Telangiectasias - conjunctiva, skin.[1]
References
- ↑ 1.0 1.1 Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1323. ISBN 978-1416031215.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/208900. Accessed on: 3 February 2011.