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Showing 1 to 1 of 1 for “"expanding genotype-phenotype"”.

  1. Expanding the Phenotype of SETD5-related Disorder through a Facebook Support Group

    … 0.001). Our findings elucidated novel phenotypes–joint pain (27%) and persistent leg pain (31%)–and higher prevalence of seizures (25%). We found that <em>SETD5-</em>related disorder is best characterized heterogeneously by developmental delays, musculoskeletal, …

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