Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse-Reference-Cited by-同舟云学术

Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse

Published:2019-07-05 Issue:7 Volume:14 Page:e0219280
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Beauchamp Marie-Claude,Djedid Anissa,Daupin Kevin,Clokie Kayla,Kumar Shruti,Majewski Jacek,Jerome-Majewska Loydie Anne^ORCID

Funder

Canadian Institutes of Health Research

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference33 articles.

1. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients;D Lehalle;Human mutation,2014

2. Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome;A Sarkar;American journal of medical genetics Part A,2015

3. Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis;S Rengasamy Venugopalan;Orthodontics & craniofacial research,2017

4. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update;L Huang;Human mutation,2016

5. Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children;KPT Yu;Clinical dysmorphology,2018

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly;BMC Medical Genomics;2024-09-06

2. The Spliceosome Factor EFTUD2 Promotes IFN Anti-HBV Effect through mRNA Splicing;Mediators of Inflammation;2023-06-23

3. Sf3b4 regulates chromatin remodeler splicing and Hox expression;Differentiation;2023-05

4. Alternative pre-mRNA splicing as a mechanism for terminating Toll-like Receptor signaling;Frontiers in Immunology;2022-12-01

5. A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type;The Cleft Palate-Craniofacial Journal;2022-11-01