Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome
about
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.Identification of novel genes in aging osteoblasts using next-generation sequencing and bioinformatics.SoxC transcription factors: multifunctional regulators of neurodevelopment.Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.Phosphorylation Modulates the Subcellular Localization of SOX11.Phosphorylation of the neurogenic transcription factor SOX11 on serine 133 modulates neuronal morphogenesisMutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
P2860
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P2860
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Deletions and de novo mutation ...... tures of Coffin-Siris syndrome
@ast
Deletions and de novo mutation ...... tures of Coffin-Siris syndrome
@en
type
label
Deletions and de novo mutation ...... tures of Coffin-Siris syndrome
@ast
Deletions and de novo mutation ...... tures of Coffin-Siris syndrome
@en
prefLabel
Deletions and de novo mutation ...... tures of Coffin-Siris syndrome
@ast
Deletions and de novo mutation ...... tures of Coffin-Siris syndrome
@en
P2093
P2860
P50
P1476
Deletions and de novo mutation ...... tures of Coffin-Siris syndrome
@en
P2093
Adriana Lo-Castro
Agatino Battaglia
Alisdair McNeill
Alistair T Pagnamenta
Aman Singh Sohal
Annmarie Hempel
Beate Albrecht
DDD Collaboration
David Keays
Ghislaine Plessis
P2860
P304
P356
10.1136/JMEDGENET-2015-103393
P407
P577
2015-11-05T00:00:00Z