Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33911/fullpdf
Reference32 articles.
1. Weight loss in Huntington disease increases with higher CAG repeat number;Aziz;Neurology,2008
2. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease;Aziz;Neurology,2009
3. The gender effect in juvenile Huntington disease patients of Italian origin;Cannella;Am J Med Genet Part B,2004
4. Is Huntington's disease of cerebellar/brainstem origin?;Deckel;Lancet,1995
5. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease;Djoussé;Am J Med Genet Part A,2003
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