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Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome
Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulati...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Jaypee Brothers Medical Publishers
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233707/ https://www.ncbi.nlm.nih.gov/pubmed/28127172 http://dx.doi.org/10.5005/jp-journals-10005-1394 |