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A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type
Clinical Dysmorphology, 2020 Yoko, Narumi-Kishimoto, Hiroshi, Ozawa, Kumiko, Yanagi, Tomoko, Kawai, Koji, Okamura, Kenichiro, Hata, Tadashi, Kaname, Yoichi, Matsubara +7 moreopenaire +2 more sourcesMandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant
2014 Poster ...Chung, BHY, Amiel, J, Gordon, CT, Tan, TY, Oufadem, M, Chan, HB, Chu, WY, Fung, GPC +7 moreopenaire +1 more sourceIdentification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance
Frontiers of Medicine, 2023 Nuo, Si, Guoqin, Zhan, Xiaolu, Meng, Zeya, Zhang, Xin, Huang, Bo, Pan +5 moreopenaire +2 more sourcesNovel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome
American Journal of Medical Genetics Part A, 2015 Arindam, Sarkar, Lisa T, Emrick, Eboni M, Smith, Elise G, Austin, Yaping, Yang, Jill V, Hunter, Fernando, Scaglia, Seema R, Lalani +7 moreopenaire +2 more sources
