Categoría: Systematic Review
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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…