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RESULTS We identified predicted pathogenic variant in the FAF1 gene (c.1111GA; p.Asp371Asn) in the discovery cohort; it was present in 4 patients of the same family. We identified a second variant in FAF1 in the validation cohort (c.254GC; p.Arg85Pro). Both variants encoded unstable FAF1 proteins. Expression of these variants in CRC cells caused them to become resistant to apoptosis, accumulate b-catenin in the cytoplasm, and translocate NF-kB to the nucleus. CONCLUSIONS In whole-exome sequencing analyses of patients from families

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ality of these interventions can be improved.Chemical shift imaging (CSI) is an important fat-suppression technique in magnetic resonance imaging (MRI); it is used routinely in abdominal imaging to detect the presence of intralesional fat. Its utility in musculoskeletal imaging has recently gained interest as a technique that is complementary to routine imaging. It is believed to aid in diagnosing and differentiating various osseous pathologies. This review describes the role of CSI as an imaging technique for diagnosing various osseo