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Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review
Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and her older sibling, labeled as cerebral palsy. She had renal transpla...
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| Veröffentlicht in: | J Renal Inj Prev |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nickan Research Institute
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5423287/ https://ncbi.nlm.nih.gov/pubmed/28497078 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15171/jrip.2017.14 |
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