TY  - GEN
AU  - Yu,Kris P T
AU  - Luk,Ho-Ming
AU  - Gordon,Christopher T
AU  - Fung,Genevieve
AU  - Oufadem,Myriam
AU  - Garcia-Barcelo,Maria M
AU  - Amiel,Jeanne
AU  - Chung,Brian H Y
AU  - Lo,Ivan F M
AU  - Tiong,Yang Tan
TI  - Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children
SN  - 1473-5717
PY  - 2018///0903
KW  - Child, Preschool
KW  - Developmental Disabilities
KW  - genetics
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mandibulofacial Dysostosis
KW  - Mutation
KW  - Peptide Elongation Factors
KW  - Protein Isoforms
KW  - Ribonucleoprotein, U5 Small Nuclear
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1097/MCD.0000000000000214
ER  -