Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

BACKGROUND: Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34...

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Main Authors: Schwaibold, Eva Maria Christina, Smogavec, Mateja, Hobbiebrunken, Elke, Winter, Lorenz, Zoll, Barbara, Burfeind, Peter, Brockmann, Knut, Pauli, Silke
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4209064/
https://ncbi.nlm.nih.gov/pubmed/25349628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0074-7
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