Joubert Syndrome, A Ciliopathy
| Autor: | J Gordon Millichap |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | Pediatric Neurology Briefs, Vol 27, Iss 10, Pp 79-79 (2013) |
| Druh dokumentu: | article |
| ISSN: | 1043-3155 2166-6482 |
| DOI: | 10.15844/pedneurbriefs-27-10-8 |
| Popis: | Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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