Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.
about
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylationAltered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autismA de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.
P2860
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.
@en
type
label
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.
@en
prefLabel
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.
@en
P2093
P2860
P1433
P1476
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.
@en
P2093
Anne Marie Denny
Francois V Bolduc
Oana Caluseriu
Ratika Srivastava
P2860
P356
10.1212/NXG.0000000000000058
P577
2016-03-22T00:00:00Z