Publication: KIAA0586 is mutated in Joubert syndrome
KIAA0586 is mutated in Joubert syndrome
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Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenço, C., Arslan, M., Shendure, J., & Doherty, D. (2015). KIAA0586 is mutated in Joubert syndrome. Human Mutation, 36(9), 831–835. https://doi.org/10.1002/humu.22821
Abstract
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Abstract
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. Biallelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS. Despite this large number of genes, the genetic cause can currently be determined in about 62% of individuals with JS. To i
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- Phelps, Ian G
- Dempsey, Jennifer C
- Sharma, Vivek A
- Ishak, Gisele E
- Boyle, Evan A
- Wilson, Meredith
- Arslan, Mutluay
- Shendure, Jay
- Doherty, Dan
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Bachmann-Gagescu, R., Phelps, I. G., Dempsey, J. C., Sharma, V. A., Ishak, G. E., Boyle, E. A., Wilson, M., Marques Lourenço, C., Arslan, M., Shendure, J., & Doherty, D. (2015). KIAA0586 is mutated in Joubert syndrome. Human Mutation, 36(9), 831–835. https://doi.org/10.1002/humu.22821
