FIGURE
Figure 1
- ID
- ZDB-FIG-210813-5
- Publication
- Park et al., 2021 - Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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Figure 1
Facial and dental characteristics of the patient. The face was long and narrow and showed signs of third nerve palsy, grimacing smile, pinched and hump nose, maxillary retrognathia compared to the mandible, and skeletal Class III malocclusion without microencephaly ( |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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Full text @ Sci. Rep.