ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal
Introduction: We identified a female patient with mental retardation and sensory hyperarousal. She has a de novo paracentric inversion of one X chromosome with completely skewed inactivation of the normal X chromosome. Objective: We aimed to identify whether a single gene or gene region caused her cognitive and behavioural impairment and that of others. Results:… [Read More]