A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type
Yoko Narumi‐Kishimoto, Hiroshi Ozawa, Kumiko Yanagi, Tomoko Kawai, Koji Okamura, Kenichiro Hata, Tadashi Kaname, Yoichi Matsubara
Abstract
Narumi-Kishimoto, Yoko; Ozawa, Hiroshi; Yanagi, Kumiko; Kawai, Tomoko; Okamura, Koji; Hata, Kenichiro; Kaname, Tadashi; Matsubara, YoichiAuthor Information
Topics & Concepts
MedicineGeneticsMutationGeneBiologyCraniofacial Disorders and TreatmentsRNA modifications and cancerNeurogenetic and Muscular Disorders Research