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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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S. Karger AG
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459520/ https://www.ncbi.nlm.nih.gov/pubmed/36160485 http://dx.doi.org/10.1159/000525798 |