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Rhombencephalosynapsis: Fused cerebellum, confused geneticists
Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by fusion of the cerebellar hemispheres with partial or complete absence of a recognizable cerebellar vermis. Subsets of patients also have other brain malformations such as midbrain fusion with aqueductal stenosis, chara...
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| Publicado no: | Am J Med Genet C Semin Med Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6540982/ https://ncbi.nlm.nih.gov/pubmed/30580482 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31666 |
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