CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities. Using homozygosity mapping in a lar...

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Detalhes bibliográficos
Main Authors: Nicolas, Elsa, Poitelon, Yannick, Chouery, Eliane, Salem, Nabiha, Levy, Nicolas, Mégarbané, André, Delague, Valérie
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987462/
https://ncbi.nlm.nih.gov/pubmed/20531441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.82
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