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Joubert Syndrome: Imaging Features and Illustration of a Case
BACKGROUND: Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. CASE REPORT: We present another case of this uncommon syndrome in a 12 years old patient...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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International Scientific Literature, Inc.
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213002/ https://www.ncbi.nlm.nih.gov/pubmed/25360184 http://dx.doi.org/10.12659/PJR.890941 |