Article
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
American journal of medical genetics. Part A - 1 Jan 2018
Guen Vincent J, Edvardson Simon, Fraenkel Nitay D, Fattal-Valevski Aviva, Jalas Chaim, Anteby Irene, Shaag Avraham, Dor Talia, Gillis David, Kerem Eitan, Lees Jacqueline A, Colas Pierre, Elpeleg Orly
Abstract excerpt
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female...
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