Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts – A Case Report
Joubert syndrome (JS) is a rare, autosomal recessive, genetic syndrome that derives from the defects in a sensory organelle, the primary cilia. It is a multiorgan disorder affecting the brain, kidneys, liver, and eyes. The most common presenting feature in the newborn period is hypotonia, abnormal e...
| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
Karger Publishers
2022-08-01
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| Colecção: | Case Reports in Ophthalmology |
| Assuntos: | |
| Acesso em linha: | https://www.karger.com/Article/FullText/525798 |