Article
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
Molecular genetics & genomic medicine - 1 Jul 2021
Shapiro Adam J, Kaspy Kimberley, Daniels M Leigh Ann, Stonebraker Jaclyn R, Nguyen Van-Hung, Joyal Lyne, Knowles Michael R, Zariwala Maimoona A
Abstract excerpt
BACKGROUND: Primary ciliary dyskinesia (PCD) is a mostly autosomal recessive, genetic disease of abnormal motile cilia function, resulting in bronchiectasis, infertility, organ laterality defects, and chronic otolaryngology disease. Though motile, ependymal cilia influencing cerebrospinal fluid flow in the central nervous system share many aspects of structure and function with motile cilia in the respiratory...
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