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Article

Functional loss of Ccdc1 51 leads to hydrocephalus in a mouse model of primary ciliary dyskinesia

1 Aug 2019

Abstract excerpt

ABSTRACT Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder affecting normal structure and function of motile cilia, phenotypically manifested as chronic respiratory infections, laterality defects and infertility. Autosomal recessive mutations in genes encoding for different components of the ciliary axoneme have been associated with PCD in humans and in model organisms. The CCDC151 gene...

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PMID: 31383820
DOI: 10.1242/dmm.038489

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