Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
about
New insights into the generation and role of de novo mutations in health and diseaseNext-Generation Sequencing in Intellectual DisabilityIdentification of REST targets in the Xenopus tropicalis genomeMolecular subtyping and improved treatment of neurodevelopmental disease.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisBainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.miR-126-5p promotes retinal endothelial cell survival through SetD5 regulation in neurons.Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.Histomorphological Phenotyping of the Adult Mouse Brain.Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
P2860
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P2860
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
description
2014 nî lūn-bûn
@nan
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
2014年论文
@zh
2014年论文
@zh-cn
name
Loss-of-function variants of S ...... microdeletion 3p25.3 syndrome.
@ast
Loss-of-function variants of S ...... microdeletion 3p25.3 syndrome.
@en
type
label
Loss-of-function variants of S ...... microdeletion 3p25.3 syndrome.
@ast
Loss-of-function variants of S ...... microdeletion 3p25.3 syndrome.
@en
prefLabel
Loss-of-function variants of S ...... microdeletion 3p25.3 syndrome.
@ast
Loss-of-function variants of S ...... microdeletion 3p25.3 syndrome.
@en
P2093
P2860
P50
P356
P1476
Loss-of-function variants of S ...... microdeletion 3p25.3 syndrome.
@en
P2093
Alexander M Zink
Alma Kuechler
Avner Schlessinger
Carina Maylahn
Christiane Zweier
Claudia Pinato
Dagmar Wieczorek
Eva Wohlleber
Federica Tamburrino
Gaia Novarino
P2860
P2888
P304
P356
10.1038/EJHG.2014.165
P577
2014-08-20T00:00:00Z