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Faces of patients with pathogenic PURA variants. Recurrent similarities include a myopathic face, high anterior hairline, almond-shaped palpebral fissures, and full cheeks. A flat nasal bridge with a wide and triangular nasal tip, thickened nostrils, a well-defined philtrum, heavy eyebrows, and periorbital fullness was seen in a subset of individuals. PURA = purine-rich element-binding protein A.
