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Article

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

Clinical dysmorphology - 1 Oct 2020

Narumi-Kishimoto Yoko, Ozawa Hiroshi, Yanagi Kumiko, Kawai Tomoko, Okamura Koji, Hata Kenichiro, Kaname Tadashi, Matsubara Yoichi

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PMID: 32541334
DOI: 10.1097/MCD.0000000000000330

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A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.PMID 32541334Read ↗

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

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.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: Mutation and Database Update.Semantic proximity Read ↗

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

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

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

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

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