Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features. [version 2; peer review: 2 approved]
Background. Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with an estimated prevalence of 1 in 100,000. JS is characterized by hyperpnoea, hypotonia, ataxia, developmental delay and various neuropathological abnormalities in the brain including cerebellar hypoplasia and cerebellar v...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
F1000 Research Ltd
2023-03-01
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| Series: | F1000Research |
| Subjects: | |
| Online Access: | https://f1000research.com/articles/11-388/v2 |