Categoría: Systematic Review
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Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review
BackgroundThe genetic aetiology of global developmental delay (GDD) and intellectual disability (ID) in Africa is poorly understood. This review synthesises the available information on this topic.MethodsOriginal articles published in the English langu…
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Coffin–Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling
BackgroundCoffin–Lowry syndrome (CLS) is a rare X-linked disorder caused by pathogenic variants in RPS6KA3, presenting with intellectual disability, distinctive facial and skeletal features, and variable systemic involvement. Advances in genomic techno…