A homozygous deleterious mutation in CDK10 is associated with agenesis of corpus callosum, retinopathy and deafness.

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 reti...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6190576/
https://ncbi.nlm.nih.gov/pubmed/29130579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38506
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