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Paper Information

Journal:   JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES   DECEMBER 2008-JANUARY 2009 , Volume 18 , Number 67; Page(s) 111 To 117.
 
Paper: 

REPORT THREE CASES OF ATAXIA-TLELENGIECTAZIA

 
 
Author(s):  GHAFARI JAVAD*, SAKHAEI NAHID, MASIHA F.
 
* FACULTY OF MEDICINE, MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, SARI, IRAN
 
Abstract: 

Ataxia-telangiectasia syndrome is an autosomal recessive associated with combined immunodeficiency, progressive cerebellum ataxia, telangiectasia, ocolomotor apraxia, dysartheria and respiratory infections. In this study we reported three cases from a family with classical symptoms. Second sibling was died at 13 old years because severe respiratory infection but third and forth siblings have life. The first sibling is female and normal.

 
Keyword(s): ATAXIA, TELANGIECTAZIA, IMMUNODEFICIENCY
 
References: 
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