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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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主要な著者: | , , , , , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
出版事項: |
The American Society of Human Genetics
2005
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1226212/ https://ncbi.nlm.nih.gov/pubmed/16080122 |
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