Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.
View Article and Find Full Text PDFThe aim of this study was to investigate the cardiovascular risk profile of the participants recruited from stroke awareness campaigns in Santa Maria RS, Brazil, from 2012 to 2016, using the simplified version of the Framingham Risk Score (FRS). Questionnaires were used to evaluate 1,061 participants from 20 to 74 years old. Data on cardiovascular risk factors were obtained.
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