Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
Copyright policy )Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically heterogeneous disorder characterized by oto-sino-pulmonary disease and situs abnormalities (Kartagener syndrome) due to abnormal structure and/or function of cilia. Most patients currently recognized to have PCD have ultrastructural defects of cilia; however, some patients have clinical manifestations of PCD and low levels of nasal nitric oxide, but normal ultrastructure, including a few patients with biallelic mutations in DNAH11.
- University of Toronto Canada
- University of Freiburg Germany
- Boston Children's Hospital United States
- University of Colorado Denver United States
- Washington University in St. Louis United States
Adult, Male, Polymorphism, Genetic, Adolescent, Genotype, Reverse Transcriptase Polymerase Chain Reaction, Infant, Axonemal Dyneins, Pedigree, Young Adult, Phenotype, Child, Preschool, Mutation, Humans, Female, Cilia, Child, Ciliary Motility Disorders
Adult, Male, Polymorphism, Genetic, Adolescent, Genotype, Reverse Transcriptase Polymerase Chain Reaction, Infant, Axonemal Dyneins, Pedigree, Young Adult, Phenotype, Child, Preschool, Mutation, Humans, Female, Cilia, Child, Ciliary Motility Disorders
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