We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Report three cases of Ataxia-Tlelengiectazia.
- Authors
Ghafari, Javad; Sakhaee, Nahid; Masiha, Farzad
- 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.
- Subjects
ATAXIA telangiectasia; POLYCYSTIC kidney disease; IMMUNODEFICIENCY; CEREBELLUM diseases; APRAXIA; RESPIRATORY diseases
- Publication
Journal of Mazandaran University of Medical Sciences (JMUMS), 2008, Vol 18, Issue 67, p1
- ISSN
1735-9260
- Publication type
Article