A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type
Clin Dysmorphol
.
2020 Jun 11.
doi: 10.1097/MCD.0000000000000330.
Online ahead of print.
Authors
Yoko Narumi-Kishimoto
1
,
Hiroshi Ozawa
2
,
Kumiko Yanagi
3
,
Tomoko Kawai
4
,
Koji Okamura
5
,
Kenichiro Hata
4
,
Tadashi Kaname
3
,
Yoichi Matsubara
6
Affiliations
1
Medical Genome Center, National Research Institute for Child Health and Development.
2
Department of Child Neurology, Shimada Ryouiku Center Hachioji.
3
Department of Genome Medicine.
4
Departments of Maternal-Fetal Biology.
5
Department of Systems BioMedicine.
6
National Research Institute for Child Health and Development, Tokyo, Japan.
PMID:
32541334
DOI:
10.1097/MCD.0000000000000330
No abstract available