Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

Abstract Background Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions.The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role.The definition of the phenot

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Abdominal plexiform neurofibroma. Case report

Introduction: Plexiform neurofibroma is Wax Essentials a subtype of type 1 neurofibromatosis that is characterized by affecting multiple bundles of a nerve, being recurrent, and having a high risk of malignant transformation.Case Report: A 2-year-old female patient, her mother noticed increase in volume in the lower abdominal region.On physical exa

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