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Chromodomain Proteins in Development: Lessons from CHARGE Syndrome

In humans, heterozygous mutations in the ATP-dependent chromatin remodeling gene CHD7 cause CHARGE syndrome, a common cause of deaf-blindness, balance disorders, congenital heart malformations, and olfactory dysfunction with an estimated incidence of approximately 1 in 10,000 newborns. The clinical...

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Autors principals: Layman, Wanda S., Hurd, Elizabeth A., Martin, Donna M.
Format: Artigo
Idioma:Inglês
Publicat: 2010
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3097394/
https://ncbi.nlm.nih.gov/pubmed/20507341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2010.01446.x
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