Joubert Syndrome: The Molar Tooth Sign of the Mid-Brain
Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney...
| Main Authors: | , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Medknow Publications & Media Pvt Ltd
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3728883/ |