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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Bibliographic Details
Main Authors: Stephanie F. Wang, Tia J. Kowal, Ke Ning, Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun
Format: Article
Language:English
Published: MDPI AG 2018-12-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/9/12/605