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Joubert syndrome: A classic case
Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia of vermis. Cerebellar vermin anomalies are desc...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396587/ https://www.ncbi.nlm.nih.gov/pubmed/30911530 http://dx.doi.org/10.4103/jfmpc.jfmpc_165_18 |