FIGURE

Figure 2

ID

ZDB-FIG-210813-6

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 2

Skeletal findings of the patient. The hands showed brachydactyly (A) and angulation of the 5th fingers (B). Broad halluces and hypertrichosis were observed in the toes (C,D).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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