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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the geneti...
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| Udgivet i: | Am J Hum Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Elsevier
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4667103/ https://ncbi.nlm.nih.gov/pubmed/26477546 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.09.009 |
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