Article
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2009
Leigh Margaret W, Pittman Jessica E, Carson Johnny L, Ferkol Thomas W, Dell Sharon D, Davis Stephanie D, Knowles Michael R, Zariwala Maimoona A
Abstract excerpt
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia...
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