EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

doi:10.1136/jmedgenet-2012-101173

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Journal of medical genetics - 1 Dec 2012

Gordon Christopher T, Petit Florence, Oufadem Myriam, Decaestecker Charles, Jourdain Anne-Sophie, Andrieux Joris, Malan Valérie, Alessandri Jean-Luc, Baujat Geneviève, Baumann Clarisse, Boute-Benejean Odile, Caumes Roseline, Delobel Bruno, Dieterich Klaus, Gaillard Dominique, Gonzales Marie, Lacombe Didier, Escande Fabienne, Manouvrier-Hanu Sylvie, Marlin Sandrine, Mathieu-Dramard Michèle, Mehta Sarju G, Simonic Ingrid, Munnich Arnold, Vekemans Michel, Porchet Nicole, de Pontual Loïc, Sarnacki Sabine, Attie-Bitach Tania, Lyonnet Stanislas, Holder-Espinasse Muriel, Amiel Jeanne

Abstract excerpt

BACKGROUND: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until now, no syndrome featuring both MFD and OA has been clearly...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

Share to Comparative Genomic Hybridization

Share to Facies

Share to Haploinsufficiency

Share to Peptide Elongation Factors

Share to Ribonucleoprotein, U5 Small Nuclear

Share to Syndrome

Source

Open in PubMed

Identifiers

PMID: 23188108
DOI: 10.1136/jmedgenet-2012-101173

Genes

EFTUD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.PMID 23188108Read ↗

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

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.Semantic proximity Read ↗

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Semantic proximity Read ↗

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.Semantic proximity Read ↗

A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.Semantic proximity Read ↗

Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.Semantic proximity Read ↗

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.Semantic proximity Read ↗

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.Semantic proximity Read ↗

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.Semantic proximity Read ↗

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.Semantic proximity Read ↗

A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.Semantic proximity Read ↗

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.