A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors

BACKGROUND: Kleefstra syndrome (KS) is a rare autosomal dominant developmental disability, caused by microdeletions or intragenic mutations within the epigenetic regulator gene EHMT1 (euchromatic histone lysine N‐methyltransferase 1). In addition to common features of autism, young adult regressive...

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Detalles Bibliográficos
Autores principales: Mitra, Amit Kumar, Dodge, Jessica, Van Ness, Jody, Sokeye, Israel, Van Ness, Brian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370220/
https://www.ncbi.nlm.nih.gov/pubmed/28361099
http://dx.doi.org/10.1002/mgg3.265

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370220/
https://www.ncbi.nlm.nih.gov/pubmed/28361099
http://dx.doi.org/10.1002/mgg3.265

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