. The lung CT images of COVID-19 patients can be typically characterized by three different findings- Ground Glass Opacity (GGO), consolidation and pleural effusion. GGOs have been shown to precede consolidations and has different heterogeneous appearance.
View Article and Find Full Text PDFPurpose: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in single-case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.
Methods: Clinical and genomic investigations of 30 individuals were undertaken alongside molecular and in silico modelling and translation reinitiation studies.