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- Title
SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India.
- Authors
Jauhari, Prashant; Sahu, Jitendra K.; Roos, Andreas; Senderek, Jan; Vyas, Sameer; Singhi, Pratibha
- Abstract
The article presents a case study involving two girl siblings at the age of 11 months and four years with early onset bilateral cataract, developmental delay and cerebellar ataxia. Magnetic resonance imaging of the brain in both the siblings revealed marked cerebellar atrophy. They showed cardinal clinico?radiological features of Marinesco?Sjögren syndrome without mutation in the SIL1 gene, which is the first report of its kind from India.
- Subjects
INDIA; SIBLINGS; FRIEDREICH'S ataxia; GENETIC mutation; GENETICS
- Publication
Journal of Pediatric Neurosciences, 2014, Vol 9, Issue 3, p291
- ISSN
1817-1745
- Publication type
Case Study
- DOI
10.4103/1817-1745.147597