Review of Ocular Manifestations of Joubert Syndrome

Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys. Common symptoms include breathing abnormalities, mental development...

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Detalles Bibliográficos
Autores principales: Wang, Stephanie F., Kowal, Tia J., Ning, Ke, Koo, Euna B., Wu, Albert Y., Mahajan, Vinit B., Sun, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315342/
https://www.ncbi.nlm.nih.gov/pubmed/30518138
http://dx.doi.org/10.3390/genes9120605

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