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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...

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Detalles Bibliográficos
Autores principales: Chettiankandi, Salam, Khan, Gazala Afreen, Khan, Hayat Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
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