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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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Mitra, Amit Kumar, Dodge, Jessica, Van Ness, Jody, Sokeye, Israel, Van Ness, Brian
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5370220/
https://ncbi.nlm.nih.gov/pubmed/28361099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.265
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