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Clinical and molecular features of Joubert syndrome and related disorders
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The co...
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2797758/ https://ncbi.nlm.nih.gov/pubmed/19876931 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30229 |
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