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International Journal of Advances In Case Reports

Volume 11, Issue 1, 2024
Mcmed International
International Journal of Advances In Case Reports
Issn
XXX-XXXX (Print), 2349 - 8005 (Online)
Frequency
bi-annual
Email
editorijacr@mcmed.us
Journal Home page
http://mcmed.us/about/ijacr
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Abstract
Title
ATAXIA TELANGIECTASIA IN SIBLINGS – A RARE CASE REPORT
Author
Jayakar Thomas, Soorya.B, Tamilarasi.S, Chinthaamani KPR, Manoharan D
Email
jayakarthomas@gmail.com
keyword
Ataxia telangiectasia, Vitiligo, Louis bar syndrome.
Abstract
Ataxia telangiectasia (synonym: Louis-Bar syndrome) is a rare neurodegenerative disorder inherited in an autosomal recessive pattern. It causes progressive degeneration of multiple systems. Commonly presents in infancy or childhood. We report a case of ataxia telangiectasia in siblings with one child, associated with vitiligo.
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