Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
about
SYNGAP1: Mind the GapTwo knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders.Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)
P2860
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P2860
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Integrated analysis of clinica ...... ribed 6p21.3 deletion syndrome
@ast
Integrated analysis of clinica ...... ribed 6p21.3 deletion syndrome
@en
type
label
Integrated analysis of clinica ...... ribed 6p21.3 deletion syndrome
@ast
Integrated analysis of clinica ...... ribed 6p21.3 deletion syndrome
@en
prefLabel
Integrated analysis of clinica ...... ribed 6p21.3 deletion syndrome
@ast
Integrated analysis of clinica ...... ribed 6p21.3 deletion syndrome
@en
P2093
P2860
P356
P1476
Integrated analysis of clinica ...... ribed 6p21.3 deletion syndrome
@en
P2093
Daniela Orteschi
Giovanni Neri
Giuseppe Marangi
Marcella Zollino
P2860
P2888
P304
P356
10.1038/EJHG.2010.172
P577
2010-12-01T00:00:00Z