A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ozcelik, Tayfun, Akarsu, Nurten, Uz, Elif, Caglayan, Safak, Gulsuner, Suleyman, Onat, Onur Emre, Tan, Meliha, Tan, Uner
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2008
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!