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The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay
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Norbert Dukuze, Janvier Hitayezu, Jeanne Primitive Uyisenga, Esther Uwibambe, Jean Hubert Caberg, Vinciane Dideberg, Vincent Bours, Abdullateef Isiaka Alagbonsi, Leon Mutesa, and Annette Uwineza
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Apr 7, 2026
This report describes the first genetically confirmed case of Kleefstra syndrome in Rwanda, found in a 15-month-old with developmental delay, hypotonia, short stature, and typical facial features. Exome sequencing identified a new EHMT1 frameshift variant, showing the value of genomic testing for rare diseases in resource-limited settings.
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