Abnormal glycosylation in Joubert syndrome type 10.
Megan S KaneMariska DavidsMichelle R BondChristopher J AdamsMegan E GroutIan G PhelpsDiana R O'DayJennifer C DempseyXeuli LiGretchen GolasGilbert VezinaMeral Gunay-AygunJohn A HanoverDan DohertyMiao HeMay Christine V MalicdanWilliam A GahlCornelius F BoerkoelPublished in: Cilia (2017)
The rescue of ciliogenesis and glycosylation upon reintroduction of WT OFD1 suggests that both contribute to the pathogenesis of JBTS10.
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