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The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

A group of disorders with disparate symptomatology, including congenital cerebellar ataxia, retinal blindness, liver fibrosis, polycystic kidney disease, and polydactyly, have recently been united under a single disease mechanism called ‘ciliopathies’. The ciliopathies are due to defects of the cell...

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Hlavní autoři: SATTAR, SHIFTEH, GLEESON, JOSEPH G
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3984879/
https://ncbi.nlm.nih.gov/pubmed/21679365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-8749.2011.04021.x
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