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

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

American journal of medical genetics. Part A - 1 Oct 2025

Shah Ruhi, Shifrin Neora, Keogh Mary Ellen, Marchi Elaine, Gavin Maureen, Amble Karen, Lyon Gholson J

Abstract excerpt

Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities. We present a 23-year-old male diagnosed with autism spectrum disorder, intellectual disability, cleft palate, micrognathia,...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mandibulofacial Dysostosis

Share to Microcephaly

Share to Neurodevelopmental Disorders

Share to Peptide Elongation Factors

Share to Ribonucleoprotein, U5 Small Nuclear

Share to Young Adult

Source

Identifiers

PMID: 40439473
DOI: 10.1002/ajmg.a.64122

Genes

EFTUD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.PMID 40439473Read ↗

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

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

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

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.Semantic proximity Read ↗

The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.Semantic proximity Read ↗

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

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

[Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type].Semantic proximity Read ↗

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

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