
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia
Keywords: رویداد دیافراگم; Filamin A; Neuronal migration; Joint hypermobility; PDA; Dilation of aorta; Ventral hernia; Diaphragmatic eventration;