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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Hlavní autoři: Ozcelik, Tayfun, Akarsu, Nurten, Uz, Elif, Caglayan, Safak, Gulsuner, Suleyman, Onat, Onur Emre, Tan, Meliha, Tan, Uner
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2008
Témata:
Biological Sciences
On-line přístup: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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