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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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| Τόπος έκδοσης: | Hum Mutat |
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| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2015
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| Θέματα: | |
| Διαθέσιμο Online: | 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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