Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure. 2022

Luisa Biebach, and Sandra Cindrić, and Julia Koenig, and Isabella Aprea, and Gerard W Dougherty, and Johanna Raidt, and Diana Bracht, and Renate Ruppel, and Jens Schreiber, and Rim Hjeij, and Heike Olbrich, and Heymut Omran
University Children's Hospital Muenster Muenster, Germany.

UI MeSH Term Description Entries
D007619 Kartagener Syndrome An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts. Kartagener Triad,Ciliary Dyskinesia, Primary, 1,Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus,Dextrocardia, Bronchiectasis, and Sinusitis,Kartagener's Syndrome,Kartagener's Triad,Polynesian Bronchiectasis,Siewert Syndrome,Bronchiectasis, Polynesian,Kartageners Syndrome,Kartageners Triad,Polynesian Bronchiectases,Syndrome, Kartagener,Syndrome, Kartagener's,Syndrome, Siewert
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002923 Cilia Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed) Motile Cilia,Motile Cilium,Nodal Cilia,Nodal Cilium,Primary Cilia,Primary Cilium,Cilium,Cilia, Motile,Cilia, Nodal,Cilia, Primary,Cilium, Motile,Cilium, Nodal,Cilium, Primary
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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