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Article

The ciliopathies: a transitional model into systems biology of human genetic disease.

Current opinion in genetics & development - 1 Jun 2012

Davis Erica E, Katsanis Nicholas

Abstract excerpt

The last decade has witnessed an explosion in the identification of genes, mutations in which appear sufficient to cause clinical phenotypes in humans. This is especially true for disorders of ciliary dysfunction in which an excess of 50 causal loci are now known; this discovery was driven partly by an improved understanding of the protein composition of the cilium and the co-occurrence of clinical phenotypes...

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Identifiers

PMID: 22632799
DOI: 10.1016/j.gde.2012.04.006
PMCID: PMC3509787

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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