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Article

Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.

Orthodontics & craniofacial research - 1 Jun 2017

Rengasamy Venugopalan S, Farrow E G, Lypka M

Abstract excerpt

OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28643921
DOI: 10.1111/ocr.12150

Genes

EFTUD2

Variants

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.

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Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.PMID 28643921Read ↗

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