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Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome)

Dysequilibrium syndrome (DES) is a genetically heterogeneous condition that combines autosomal recessive, non-progressive cerebellar ataxia with mental retardation. Here we report the first patient heterozygous for two novel mutations in VLDLR. An 18-month old girl presented with significant hypoton...

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Библиографические подробности
Главные авторы: Boycott, Kym M, Bonnemann, Carsten, Herz, Joachim, Neuert, Stephanie, Beaulieu, Chandree, Scott, James N, Venkatasubramanian, Anuradha, Parboosingh, Jillian S
Формат: Artigo
Язык:Inglês
Опубликовано: 2009
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2849979/
https://ncbi.nlm.nih.gov/pubmed/19332571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073809332696
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