Article
Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
International journal of molecular sciences - 3 Feb 2022
Ostrowski Lawrence E, Yin Weining, Smith Amanda J, Sears Patrick R, Bustamante-Marin Ximena M, Dang Hong, Hildebrandt Friedhelm, Daniels Leigh Anne, Capps Nicole A, Sullivan Kelli M, Leigh Margaret W, Zariwala Maimoona A, Knowles Michael R
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a rare lung disease caused by mutations that impair the function of motile cilia, resulting in chronic upper and lower respiratory disease, reduced fertility, and a high prevalence of situs abnormalities. The disease is genetically and phenotypically heterogeneous, with causative mutations in > 50 genes identified, and clinical phenotypes ranging from mild to severe. Absence of...
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