FIGURE
Fig. 2
- ID
- ZDB-FIG-220706-98
- Publication
- Yang et al., 2022 - A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly
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Fig. 2
Sanger sequencing of the novel EFTUD2 missense mutation. Whole‐exome sequencing identified a novel EFTUD2 missense mutation (c.671G>T, p.Gly224Val) in a proband with mandibulofacial dysostosis with microcephaly (MFDM). (A) Sanger sequencing confirmed the EFTUD2 missense mutation (c.671G>T, p.Gly224Val) in blood samples from the proband; (B‐D) the EFTUD2 missense mutation (c.671G>T, p.Gly224Val) was not detected in peripheral blood samples of the proband's parents and amniotic fluid samples of the parents’ second baby. Black arrows indicate the point mutation (G>T) |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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Full text @ J Clin Lab Anal