Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
about
Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.Inhibition of SNW1 association with spliceosomal proteins promotes apoptosis in breast cancer cellsEFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.A review of craniofacial disorders caused by spliceosomal defects.Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.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.Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.
P2860
Q33557335-14C031FE-5289-4D16-816D-D25D6FBC3D98Q35084945-5D604EFA-B2BE-431F-B303-D9CC8E169E77Q35805964-BEFC5392-0437-44AB-AD5B-7C9938327CD0Q38417433-D9730028-D787-46A4-BB58-AFD9BC1E6B8EQ38617659-4B401589-4310-4A9A-A9FF-4C0130DD3DA3Q39149599-6D986581-2275-4ED6-A6BF-20B71CEC8B8BQ41919376-A25071BB-1AC5-4083-8F0A-AD5872955E83Q41929117-FAEBEE2C-975E-41CE-B5B4-7D834746B3D3Q42182097-CAEABCEB-C175-438E-BAF3-53AD13FC7AA9Q47361425-E272B8B3-5328-4D98-AAAA-8A410AB953F7Q55449582-C4B6C5A7-56C2-4CD5-B506-E9C1419B2267
P2860
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մարտին հրատարակված գիտական հոդված
@hy
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
name
Delineation of EFTUD2 haploins ...... rough a series of 36 patients.
@ast
Delineation of EFTUD2 haploins ...... rough a series of 36 patients.
@en
type
label
Delineation of EFTUD2 haploins ...... rough a series of 36 patients.
@ast
Delineation of EFTUD2 haploins ...... rough a series of 36 patients.
@en
prefLabel
Delineation of EFTUD2 haploins ...... rough a series of 36 patients.
@ast
Delineation of EFTUD2 haploins ...... rough a series of 36 patients.
@en
P2093
P2860
P50
P356
P1433
P1476
Delineation of EFTUD2 haploins ...... rough a series of 36 patients.
@en
P2093
Alexandre Vasiljevic
Alice Goldenberg
Charles Decaestecker
Christel Thauvin-Robinet
Clarisse Baumann
Daphné Lehalle
Dominique Gaillard
Geneviève Baujat
Gilles Morin
Géraldine Goudefroye
P2860
P304
P356
10.1002/HUMU.22517
P50
P577
2014-03-05T00:00:00Z