KIAA0586 is mutated in Joubert syndrome

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies, based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Bi-all...

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Bibliographic Details
Published in:Hum Mutat
Main Authors: Bachmann-Gagescu, Ruxandra, Phelps, Ian G., Dempsey, Jennifer C., Sharma, Vivek A., Ishak, Gisele E., Boyle, Evan A, Wilson, Meredith, Lourenço, Charles Marques, Arslan, Mutluay, Shendure, Jay, Doherty, Dan
Format: Artigo
Language:Inglês
Published: 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4537327/
https://ncbi.nlm.nih.gov/pubmed/26096313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22821
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