Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population. An identity-by-descent mapping approach using eight patients from three interrelated Hutter...

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Auteurs principaux: Boycott, Kym M., Flavelle, Shauna, Bureau, Alexandre, Glass, Hannah C., Fujiwara, T. Mary, Wirrell, Elaine, Davey, Krista, Chudley, Albert E., Scott, James N., McLeod, D. Ross, Parboosingh, Jillian S.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2005
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226212/
https://ncbi.nlm.nih.gov/pubmed/16080122
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