Discover Community Create You

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

Article

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

Journal of clinical laboratory analysis - 1 May 2022

Yang Mei, Liu Yanyan, Lin Ziyuan, Sun Huaqin, Hu Ting

Abstract excerpt

BACKGROUND: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare multiple malformation syndrome characterized by malar and mandibular hypoplasia and congenital- or postnatal-onset microcephaly induced by haploinsufficiency of (elongation factor Tu GTP-binding domain-containing 2) EFTUD2. METHODS: We report the case of a 16-month-old boy with MFDM symptoms, including malar and mandibular hypoplasia,...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mandibulofacial Dysostosis

Share to Microcephaly

Share to Mutation, Missense

Share to Peptide Elongation Factors

Share to Ribonucleoprotein, U5 Small Nuclear

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 35435265
DOI: 10.1002/jcla.24440
PMCID: PMC9102503

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.PMID 35435265Read ↗

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

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

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

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in KoreaSemantic proximity Read ↗

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

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

Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.Semantic proximity Read ↗

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.Semantic proximity Read ↗

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.Semantic proximity Read ↗

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.Semantic proximity Read ↗

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

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

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