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A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

BACKGROUND: Kleefstra Syndrome (KS) (MIM# 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase‐1 (EHMT1, GLP). EHMT1 (MIM# 607001) encodes a histone methyltransferase that heterodimerizes with EHMT2 (also known as G9a, MIM# 604599), which to...

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Detalles Bibliográficos
Autores principales:	Blackburn, Patrick R., Williams, Monique, Cousin, Margot A., Boczek, Nicole J., Beek, Geoffrey J., Lomberk, Gwen A., Urrutia, Raul A., Babovic‐Vuksanovic, Dusica, Klee, Eric W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Clinical Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370226/ https://www.ncbi.nlm.nih.gov/pubmed/28361100 http://dx.doi.org/10.1002/mgg3.268

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