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Pancreatic insulinoma location at surgery matched that described on the CT images in 17 of 19 cases where location was described in the surgical report. In contrast to recent publications, this study suggests hyperattenuation of insulinomas in the arterial phase is a predominant feature, and that hypoattenuation or isoattenuation are much less common. CT angiography is accurate in prediction of lesion location before surgery in most cases. In contrast to recent publications, this study suggests hyperattenuation of insulinomas in the arte

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Congenital macrothrombocytopenia is a genetically heterogeneous group of rare disorders. We herein report a large Chinese family presented with phenotypic variability involving thrombocytopenia and/or giant platelets. Whole genome sequencing (WGS) of the proband and one of his affected brothers identified a potentially pathogenic c.952 C T heterozygous variant in the TUBB1 gene. This p.R318W β1-tubulin variant was also identified in three additional siblings and five members of the next generation. These findings were consiste