Are de novo missense variants in HECW2 associated with neurodevelopmental delay and hypotonia?
This study implicates pathogenic genetic variants in HECW2 as potential causes of neurodevelopmental disorders in humans.
According to the rate of retinal injuries that would require urgent care in similar groups, in closed-globe trauma ocular fundus evaluation in the Emergency Room could be substituted by the evaluation of the fundus reflex; findings of any of these injuries in open-globe trauma does not modify the initial approach.