15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.
about
Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domainsA systematic review of genetic syndromes with obesity.Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.
P2860
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@ast
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@en
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@nl
type
label
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@ast
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@en
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@nl
prefLabel
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@ast
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@en
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@nl
P2093
P1476
15q26.1 microdeletion encompas ...... epilepsy and truncal obesity.
@en
P2093
Carolina Courage
Claudine Rieubland
Gunnar Houge
Jack Schjelderup
Sabina Gallati
P304
P356
10.1016/J.EJMG.2014.06.003
P577
2014-06-13T00:00:00Z