Recent advances in the molecular pathology, cell biology and genetics of ciliopathies.

Abstract excerpt

Primary cilia have a broad tissue distribution and are present on most cell types in the human body. Until recently, they were considered to be redundant organelles, but progress over the past 5 years has led to an understanding of their role in normal mammalian development. The class of inherited disorders that involve aberrant ciliary function are known as ciliopathies, and although their range of severity can...

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