Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Department of Medicine, Baylor College of Medicine, Houston, Texas.
Arindam
A
Sarkar
Lisa T
LT
Emrick
Eboni M
EM
Smith
Elise G
EG
Austin
Yaping
Y
Yang
Jill V
JV
Hunter
Fernando
F
Scaglia
Seema R
SR
Lalani
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D002675:Child, Preschool; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000000981:diagnostic imaging* / Q000235:genetics; D008831:Microcephaly / Q000000981:diagnostic imaging* / Q000235:genetics; D010445:Peptide Elongation Factors / Q000235:genetics*; D011859:Radiography; D017415:Ribonucleoprotein, U5 Small Nuclear / Q000235:genetics*; D013577:Syndrome
D018389:Codon, Nonsense; C581608:EFTUD2 protein, human; D010445:Peptide Elongation Factors; D017415:Ribonucleoprotein, U5 Small Nuclear