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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: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
National Academy of Sciences
2008
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| Предметы: | |
| 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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