Cilia and ciliopathies: classic examples linking phenotype and genotype-an overview.

doi:10.1016/j.reprotox.2014.05.005

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Article

Cilia and ciliopathies: classic examples linking phenotype and genotype-an overview.

Reproductive toxicology (Elmsford, N.Y.) - 1 Sept 2014

Powles-Glover Nicola

Abstract excerpt

The importance of the role of cilia in pre and post natal development has been appreciated since the previous century. However, a better understanding of the physiological and, conversely, dysfunctional role that cilia have in developmental disease is still emerging. Dysfunctioning cilia can lead to diseases with a remarkable spectrum of phenotypes ranging from embryofetal lethality, through "classic" organ...

Topics

Animals
Cilia
Congenital Abnormalities
Genotype
Humans
Phenotype

Source

Open in PubMed

Identifiers

PMID: 24859270
DOI: 10.1016/j.reprotox.2014.05.005

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