about
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilitiesA novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palateThe reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behaviorLoss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.X-linked mental retardation and epigenetics.Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.
P2860
Q24646325-BBE8CCAF-6540-4692-8F46-3F0B9B50207BQ24650497-2E32819B-BD62-4A4E-B3EA-0C1D09A11676Q24680417-3751942F-5D43-4B8D-B020-5F3CE76976B1Q34629758-AE67EA5E-9041-4C2C-A8BD-F5503EE77888Q36156859-549587F4-1508-4304-8ABA-EE8CEE54A85FQ36663018-A0ADEFAF-3EEE-4ECF-B317-17857FCEC573Q37013268-54D28225-244A-4659-838D-5428FCBD6594Q37019412-4D632BAA-E2FA-4A71-B44A-DCC7B9911E86
P2860
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Advances in X-linked mental retardation.
@ast
Advances in X-linked mental retardation.
@en
type
label
Advances in X-linked mental retardation.
@ast
Advances in X-linked mental retardation.
@en
prefLabel
Advances in X-linked mental retardation.
@ast
Advances in X-linked mental retardation.
@en
P1476
Advances in X-linked mental retardation.
@en
P2093
Roger E Stevenson
P304
P356
10.1097/01.MOP.0000184290.57525.FB
P577
2005-12-01T00:00:00Z