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Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds from Turkey manifest this phenotype. In two families (A and D), shared homozy...

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Главные авторы: Ozcelik, Tayfun, Akarsu, Nurten, Uz, Elif, Caglayan, Safak, Gulsuner, Suleyman, Onat, Onur Emre, Tan, Meliha, Tan, Uner
Формат: Artigo
Язык:Inglês
Опубликовано: National Academy of Sciences 2008
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2393756/
https://ncbi.nlm.nih.gov/pubmed/18326629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0710010105
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