Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Item
http://www.wikidata.org/entity/Q30451694
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.Comparative genomics RNAi screen identifies Eftud2 as a novel regulator of innate immunity.Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.Regulation of toll-like receptor signaling by the SF3a mRNA splicing complex.EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research.Genomic approaches for studying craniofacial disorders.Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.A review of craniofacial disorders caused by spliceosomal defects.Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Review of the Genetic Basis of Jaw Malformations.Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.Goldenhar syndrome with blepharophimosis and limb deformities: a case report
P2860

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Item
http://www.wikidata.org/entity/Q30451694
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Oto-facial syndrome and esopha ...... ociated with EFTUD2 mutations.
@ast
Oto-facial syndrome and esopha ...... ociated with EFTUD2 mutations.
@en
type
label
Oto-facial syndrome and esopha ...... ociated with EFTUD2 mutations.
@ast
Oto-facial syndrome and esopha ...... ociated with EFTUD2 mutations.
@en
prefLabel
Oto-facial syndrome and esopha ...... ociated with EFTUD2 mutations.
@ast
Oto-facial syndrome and esopha ...... ociated with EFTUD2 mutations.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P921
P932
P356
P1433
P1476
Oto-facial syndrome and esopha ...... ociated with EFTUD2 mutations.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P921
P932