Carregant...
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...
Guardat en:
| Autor principal: | |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
|
| Matèries: | |
| Accés en línia: | 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 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|