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Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC): a study protocol

2024-02-24 genetic and genomic medicine Title + abstract only
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Around 2000 children are born in the UK per year with a neurodevelopmental genetic syndrome with significantly increased morbidity and mortality(1). Often little is known about expected growth and phenotypes in these children. Parents have responded by setting up social media groups to generate data themselves. Given the significant clinical evidence gaps, this research will attempt to identify growth patterns, developmental profiles and phenotypes, providing data on long-term medical and educat...

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