2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
about
Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome.Extended spectrum of MBD5 mutations in neurodevelopmental disorders.Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).MBD5 regulates iron metabolism via methylation-independent genomic targeting of Fth1 through KAT2A in mice.
P2860
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
2q23.1 microdeletion of the MB ...... distinct dysmorphic features.
@en
2q23.1 microdeletion of the MB ...... distinct dysmorphic features.
@nl
type
label
2q23.1 microdeletion of the MB ...... distinct dysmorphic features.
@en
2q23.1 microdeletion of the MB ...... distinct dysmorphic features.
@nl
prefLabel
2q23.1 microdeletion of the MB ...... distinct dysmorphic features.
@en
2q23.1 microdeletion of the MB ...... distinct dysmorphic features.
@nl
P1476
2q23.1 microdeletion of the MB ...... distinct dysmorphic features.
@en
P2093
Grace J Noh
John M Graham
P304
P356
10.1016/J.EJMG.2012.05.003
P577
2012-05-29T00:00:00Z