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

Yu, Kris P T

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. [electronic resource] - Clinical dysmorphology Apr 2018 - 31-35 p. digital

Publication Type: Journal Article

1473-5717

10.1097/MCD.0000000000000214 doi


Child, Preschool
Developmental Disabilities--genetics
Female
Heterozygote
Humans
Infant
Male
Mandibulofacial Dysostosis--genetics
Mutation
Peptide Elongation Factors--genetics
Protein Isoforms--genetics
Ribonucleoprotein, U5 Small Nuclear--genetics