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Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype–phenotype correlations ar...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Efthymiou, Stephanie, Salpietro, Vincenzo, Bettencourt, Conceicao, Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2018
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6087480/
https://ncbi.nlm.nih.gov/pubmed/30105118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1651526
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