Article
Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia.
Cells - 11 Dec 2019
Poprzeczko Martyna, Bicka Marta, Farahat Hanan, Bazan Rafal, Osinka Anna, Fabczak Hanna, Joachimiak Ewa, Wloga Dorota
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a recessive heterogeneous disorder of motile cilia, affecting one per 15,000-30,000 individuals; however, the frequency of this disorder is likely underestimated. Even though more than 40 genes are currently associated with PCD, in the case of approximately 30% of patients, the genetic cause of the manifested PCD symptoms remains unknown. Because motile cilia are highly...
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