Ciliopathy is a collection of disorders with similar phenotyp whose common pathogenetic feature a disorder of the cellular cilium morphologically or functionally.
Retinal dystrophy | |
Ciliopathies may show retinal dystrophy of various degrees of severity. |
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Habbig S et al. (2015) Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function. |
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Lee H et al. (2015) Primary cilia in energy balance signaling and metabolic disorder. |
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Megaw RD et al. (2015) RPGR: Its role in photoreceptor physiology, human disease, and future therapies. |
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Falk N et al. (2015) Specialized Cilia in Mammalian Sensory Systems. |
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Brown JM et al. (2014) Cilia and Diseases. |
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Praveen K et al. (2015) Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. |
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Szymanska K et al. (2014) Unraveling the genetics of Joubert and Meckel-Gruber syndromes. |
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Orphanet article Orphanet ID 363250 |
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Wikipedia article Wikipedia EN (Ciliopathy) |