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Article

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

Clinical dysmorphology - 1 Apr 2018

Yu Kris P T, Luk Ho-Ming, Gordon Christopher T, Fung Genevieve, Oufadem Myriam, Garcia-Barcelo Maria M, Amiel Jeanne, Chung Brian H Y, Lo Ivan F M, Tiong Yang Tan

Abstract excerpt

Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal...

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Source

Identifiers

PMID: 29381487
DOI: 10.1097/MCD.0000000000000214

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.

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Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.PMID 29381487Read ↗

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

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

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.Semantic proximity Read ↗

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

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.Semantic proximity Read ↗

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

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

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

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

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